Marfan syndrome

Marfan Syndrome 

Definition

Marfan syndrome is an inherited disorder of the connective tissue that causes abnormalities of the patient's eyes, cardiovascular system, and musculoskeletal system. It is named for the French pediatrician, Antoine Marfan (1858–1942), who first described it in 1896. Marfan syndrome is sometimes called arachnodactyly, which means "spider-like fingers" in Greek, since one of the characteristic signs of the disease is disproportionately long fingers and toes. It is estimated that one person in every 3000-5000 has Marfan syndrome, or about 50,000 people in the United States. Marfan syndrome is one of the more common inheritable disorders.

Description

Marfan syndrome affects three major organ systems of the body: the heart and circulatory system, the bones and muscles, and the eyes. The genetic mutation responsible for Marfan was discovered in 1991. It affects the body's production of fibrillin, which is a protein that is an important part of connective tissue. Fibrillin is the primary component of the microfibrils that allow tissues to stretch repeatedly without weakening. Because the patient's fibrillin is abnormal, his or her connective tissues are looser than usual, which weakens or damages the support structures of the entire body.

The most common external signs associated with Marfan syndrome include excessively long arms and legs, with the patient's arm span being greater than his or her height. The fingers and toes may be long and slender, with loose joints that can be bent beyond their normal limits. This unusual flexibility is called hypermobility. The patient's face may also be long and narrow, and he or she may have a noticeable curvature of the spine. It is important to note, however, that Marfan patients vary widely in the external signs of their disorder and in their severity; even two patients from the same family may look quite different. Most of the external features of Marfan syndrome become more pronounced as the patient gets older, so that diagnosis of the disorder is often easier in adults than in children. In many cases, the patient may have few or very minor outward signs of the disorder, and the diagnosis may be missed until the patient develops vision problems or cardiac symptoms.

Marfan syndrome by itself does not affect a person's intelligence or ability to learn. There is, however, some clinical evidence that children with Marfan have a slightly higher rate of hyperactivity and attention-deficit disorder (ADD) than the general population. In addition, a child with undiagnosed nearsightedness related to Marfan may have difficulty seeing the blackboard or reading printed materials, and thus do poorly in school.

Marfan syndrome affects males and females equally, and appears to be distributed equally among all races and ethnic groups. The rate of mutation of the fibrillin gene, however, appears to be related to the age of the patient's father; older fathers are more likely to have new mutations appear in chromosome 15.

Causes and symptoms

Marfan syndrome is caused by a single gene for fibrillin on chromosome 15, which is inherited in most cases from an affected parent. Between 15 and 25% of cases result from spontaneous mutations. Mutations of the fibrillin gene (FBNI) are unique to each family affected by Marfan, which makes rapid genetic diagnosis impossible, given present technology. The syndrome is an autosomal dominant disorder, which means that someone who has it has a 50% chance of passing it on to any offspring.

Another important genetic characteristic of Marfan syndrome is variable expression. This term means that the mutated fibrillin gene can produce a variety of symptoms of very different degrees of severity, even in members of the same family.

Cardiac and circulatory abnormalities

The most important complications of Marfan are those affecting the heart and major blood vessels; some are potentially life-threatening. About 90% of Marfan patients will develop cardiac complications.

• Aortic enlargement. This is the most serious potential complication of Marfan syndrome. Because of the abnormalities of the patient's fibrillin, the walls of the aorta (the large blood vessel that carries blood away from the heart) are weaker than normal and tend to stretch and bulge out of shape. This stretching increases the likelihood of an aortic dissection, which is a tear or separation between the layers of tissue that make up the aorta. An aortic dissection usually causes severe pain in the abdomen, back, or chest, depending on the section of the aorta that is affected. Rupture of the aorta is a medical emergency requiring immediate surgery and medication.
• Aortic regurgitation. A weakened and enlarged aorta may allow some blood to leak back into the heart during each heartbeat; this condition is called aortic regurgitation. Aortic regurgitation occasionally causes shortness of breath during normal activity. In serious cases, it causes the left ventricle of the heart to enlarge and may eventually lead to heart failure.
• Mitral valve prolapse. Between 75 and 85% of Marfan patients have loose or "floppy" mitral valves, which are the valves that separate the chambers of the heart. When these valves do not cover the opening between the chambers completely, the condition is called mitral valve prolapse. Complications of mitral valve prolapse include heart murmurs and arrhythmias. In rare cases, mitral valve prolapse can cause sudden death.
• Infective endocarditis. Infective endocarditis is an infection of the endothelium, the tissue that lines the heart. In patients with Marfan, it is the abnormal mitral valve that is most likely to become infected.
• Other complications. Some patients with Marfan develop cystic disease of the lungs or recurrent spontaneous pneumothorax, which is a condition in which air accumulates in the space around the lungs. Many will also eventually develop emphysema.

Musculoskeletal abnormalities

Marfan syndrome causes an increase in the length of the patient's bones, with decreased support from the ligaments that hold the bones together. As a result, the patient may develop various deformities of the skeleton or disorders related to the relative looseness of the ligaments.

Disorders of the spine

• Scoliosis. Scoliosis, or curvature of the spine, is a disorder in which the vertebrae that make up the spine twist out of line from side to side into an S-shape or a spiral. It is caused by a combination of the rapid growth of children with Marfan, and the looseness of the ligaments that help the spine to keep its shape.
• Kyphosis is an abnormal outward curvature of the spine at the back, sometimes called hunch back when it occurs in the upper back. Marfan patients may develop kyphosis either in the upper (thoracic) spine or the lower (lumbar) spine.
• Spondylolisthesis. Spondylolisthesis is the medical term for a forward slippage of one vertebra on the one below it. It produces an ache or stiffness in the lower back.
• Dural ectasia. The dura is the tough, fibrous outermost membrane covering the brain and the spinal cord. The weak dura in Marfan patients swells or bulges under the pressure of the spinal fluid. This swelling is called ectasia. In most cases, dural ectasia occurs in the lower spine, producing low back ache, a burning feeling, or numbness or weakness in the legs.

Disorders of the chest and lower body

• Pectus excavatum. Pectus excavatum is a malformation of the chest in which the patient's breastbone, or sternum, is sunken inward. It can cause difficulties in breathing, especially if the heart, spine, and lung have been affected by Marfan. It also usually causes concerns about appearance.
• Pectus carinatum. In other patients with Marfan the sternum is pushed outward and narrowed. Although pectus carinatum does not cause breathing difficulties, it can cause embarassment about appearance. A few patients with Marfan may have a pectus excavatum on one side of their chest and a pectus carinatum on the other.
• Foot disorders. Patients with Marfan are more likely to develop pes planus (flat feet) or so-called "claw" or "hammer" toes than people in the general population. They are also more likely to suffer from chronic pain in their feet.
• Protrusio acetabulae. The acetabulum is the socket of the hip joint. In patient's with Marfan, the acetabulum becomes deeper than normal during growth, for reasons that are not yet understood. Although protrusio acetabulae does not cause problems during childhood and adolescence, it can lead to a painful form of arthritis in adult life.

Disorders of the eyes and face

Although the visual problems that are related to Marfan syndrome are rarely life-threatening, they are important in that they may be the patient's first indication of the disorder. Eye disorders related to the syndrome include the following:

• Myopia (nearsightedness). Most patients with Marfan develop nearsightedness, usually in childhood.
• Ectopia lentis. Ectopia lentis is the medical term for dislocation of the lens of the eye. Between 65 and 75% of Marfan patients have dislocated lenses. This condition is an important indication for diagnosis of the syndrome because there are relatively few other disorders that produce it.
• Glaucoma. This condition is much more prevalent in patients with Marfan syndrome than in the general population.
• Cataracts. Patients with Marfan are more likely to develop cataracts, and to develop them much earlier in life, sometimes as early as 40 years of age.
• Retinal detachment. Patients with Marfan are more vulnerable to this disorder because of the weakness of their connective tissues. Untreated retinal detachment can cause blindness. The danger of retinal detachment is an important reason for patients to avoid contact sports or other activities that could cause a blow on the head or being knocked to the ground.
• Other facial problems. Patients with Marfan sometimes develop dental problems related to crowding of the teeth caused by a high-arched palate and a narrow jaw.

Other disorders

• Striae. Striae are stretch marks in the skin caused by rapid weight gain or growth; they frequently occur in pregnant women, for example. Marfan patients often develop striae over the shoulders, hips, and lower back at an early age because of rapid bone growth. Although the patient may be self-conscious about the striae, they are not a danger to health.
• Obstructive sleep apnea. Obstructive sleep apnea refers to partial obstruction of the airway during sleep, causing irregular breathing and sometimes snoring. In patients with Marfan, obstructive sleep apnea is caused by the unusual flexibility of the tissues lining the patient's airway. This disturbed breathing pattern increases the risk of aortic dissection.

Diagnosis

Presently, there is no objective diagnostic test for Marfan syndrome, in part because the disorder does not produce any measurable biochemical changes in the patient's blood or body fluids, or cellular changes that could be detected from a tissue sample. Although researchers in molecular biology are currently investigating the FBNI gene through a process called mutational analysis, it is presently not useful as a diagnostic test because there is evidence that there can be mutations in the fibrillin gene that do not produce Marfan. Similarly, there is no reliable prenatal test, although some physicians have used ultrasound to try to determine the length of fetal limbs in at-risk pregnancies.

The diagnosis is made by taking a family history and a thorough examination of the patient's eyes, heart, and bone structure. The examination should include an echocardiogram taken by a cardiologist, a slit-lamp eye examination by an ophthalmologist, and a work-up of the patient's spinal column by an orthopedic specialist. In terms of the cardiac examination, a standard electrocardiogram (EKG) is not sufficient for diagnosis; only the echocardiogram can detect possible enlargement of the aorta. The importance of the slit-lamp examination is that it allows the doctor to detect a dislocated lens, which is a significant indication of the syndrome.

The symptoms of Marfan syndrome in some patients resemble the symptoms of homocystinuria, which is an inherited disorder marked by extremely high levels of homocystine in the patient's blood and urine. This possibility can be excluded by a urine test.

In other cases, the diagnosis remains uncertain because of the mildness of the patient's symptoms, the absence of a family history of the syndrome, and other variables. These borderline conditions are sometimes referred to as marfanoid syndromes.

Treatment

The treatment and management of Marfan is tailored to the specific symptoms of each patient. Some patients find that the syndrome has little impact on their overall lifestyle; others have found their lives centered on the disorder.

Cardiovascular system

After a person has been diagnosed with Marfan, he or she should be monitored with an echocardiogram every six months until it is clear that the aorta is not growing larger. After that, the patient should have an echocardiogram once a year. If the echocardiogram does not allow the physician to visualize all portions of the aorta, CT (computed tomography) or MRI (magnetic resonance imaging) may be used. In cases involving a possible aortic dissection, the patient may be given a TEE (transesophageal echocardiogram).

Medications. A Marfan patient may be given drugs called beta-blockers to slow down the rate of aortic enlargement and decrease the risk of dissection by lowering the blood pressure and decreasing the forcefulness of the heartbeat. The most commonly used beta-blockers in Marfan patients are propranolol (Inderal) and atenolol (Tenormin). Patients who are allergic to beta-blockers may be given a calcium blocker such as verapamil.

Because Marfan patients are at increased risk for infective endocarditis, they must take a prophylactic dose of an antibiotic before having dental work or minor surgery, as these procedures may allow bacteria to enter the bloodstream. Penicillin and amoxicillin are the antibiotics most often used.

Surgical treatment. Surgery may be necessary if the width of the patient's aorta increases rapidly or reaches a critical size (about 2 inches). As of 2000, the most common surgical treatment involves replacing the patient's aortic valve and several inches of the aorta itself with a composite graft, which is a prosthetic heart valve sewn into one end of a Dacron tube. This surgery has been performed widely since about 1985; most patients who have had a composite graft have not needed additional surgery.

Patients who have had a valve replaced must take an anticoagulant medication, usually warfarin (Coumadin), in order to minimize the possibility of a clot forming on the prosthetic valve.

Musculoskeletal system

Children diagnosed with Marfan should be checked for scoliosis by their pediatricians at each annual physical examination. The doctor simply asks the child to bend forward while the back is examined for changes in the curvature. In addition, the child's spine should be x rayed in order to measure the extent of scoliosis or kyphosis. The curve is measured in degrees by the angle between the vertebrae as seen on the x ray. Curves of 20° or less are not likely to become worse. Curves between 20 and 40 degrees are likely to increase in children or adolescents. Curves of 40 degrees or more are highly likely to worsen, even in an adult, because the spine is so badly imbalanced that the force of gravity will increase the curvature.

Scoliosis between 20 and 40 degrees in children is usually treated with a back brace. The child must wear this appliance about 23 hours a day until growth is complete. If the spinal curvature increases to 40 or 50 degrees, the patient may require surgery in order to prevent lung problems, back pain, and further deformity. Surgical treatment of scoliosis involves straightening the spine with metal rods and fusing the vertebrae in the straightened position.

Spondylolisthesis is treated with a brace in mild cases. If the slippage is more than 30 degree, the slipped vertebra may require surgical realignment.

Dural ectasia can be distinguished from other causes of back pain on an MRI. Mild cases are usually not treated. Medication or spinal shunting to remove some of the spinal fluid are used to treat severe cases.

Pectus excavatum and pectus carinatum can be treated by surgery. In pectus excavatum, the deformed breastbone and ribs are raised and straightened by a metal bar. After four to six months, the bar is removed in an outpatient procedure.

Protrusio acetabulae may require surgery in adult life to provide the patient with an artificial hip joint, if the arthritic pains are severe.

Pain in the feet or limbs is usually treated with a mild analgesic such as acetaminophen. Patients with Marfan should consider wearing shoes with low heels, special cushions, or orthotic inserts. Foot surgery is rarely necessary.

Visual and dental concerns

Patients with Marfan should have a thorough eye examination, including a slit-lamp examination, to test for dislocation of the lens as well as nearsightedness. Dislocation can be treated by a combination of special glasses and daily use of one percent atropine sulfate ophthalmic drops, or by surgery.

Because patients with Marfan are at increased risk of glaucoma, they should have the fluid pressure inside the eye measured every year as part of an eye examination. Glaucoma can be treated with medications or with surgery.

Cataracts are treated with increasing success by implant surgery. It is important, however, to seek treatment at medical centers with eye surgeons familiar with the possible complications of cataract surgery in patients with Marfan syndrome.

All persons with Marfan should be taught to recognize the signs of retinal detachment (sudden blurring of vision in one eye becoming progressively worse without pain or redness) and to seek professional help immediately.

Children with Marfan should be evaluated by their dentist at each checkup for crowding of the teeth and possible misalignment, and referred to an orthodontist if necessary.

Athletic activities and occupational choice. People with Marfan should avoid sports or occupations that require heavy weight lifting, rough physical contact, or rapid changes in atmospheric pressure (e.g., scuba diving). Weight lifting increases blood pressure, which in turn may enlarge the aorta. Rough physical contact may cause retinal detachment. Sudden changes in air pressure may produce pneumothorax. Regular noncompetitive physical exercise, however, is beneficial for Marfan patients. Good choices include brisk walking, shooting baskets, and slow-paced tennis.

Social and lifestyle issues

Smoking. Smoking is particularly harmful for Marfan patients because it increases their risk of emphysema.

Pregnancy. Until very recently, women with Marfan were advised not to become pregnant because of the risk of aortic enlargement or dissection. The development of beta-blockers and echocardiograms, however, allows doctors now to monitor patients throughout pregnancy. It is recommended that patients have an echocardiogram during each of the three trimesters of pregnancy. Normal, vaginal delivery is not necessarily more stressful than a Caesarian section, but patients in prolonged labor may be given a Caesarian to reduce strain on the heart. A pregnant woman with Marfan should also receive genetic counseling regarding the 50% risk of having a child with the syndrome.

Appearance and Social Concerns. Children and adolescents with Marfan may benefit from supportive counseling regarding appearance, particularly if their symptoms are severe and causing them to withdraw from social activities. In addition, families may wish to seek counseling regarding the effects of the syndrome on relationships within the family. Many people respond with guilt, fear, or blame when a genetic disorder is diagnosed in the family, or they may overprotect the affected member. Support groups are often good sources of information about Marfan; they can offer helpful suggestions about living with it as well as emotional support.

Prognosis

The prognosis for patient's with Marfan has improved markedly in recent years. As of 1995, the life expectancy of people with the syndrome has increased to 72 years, up from 48 years in 1972. This dramatic improvement is attributed to new surgical techniques, improved diagnosis, and new techniques of medical treatment.

The most important single factor in improving the patient's prognosis is early diagnosis. The earlier that a patient can benefit from the new techniques and lifestyle modifications, the more likely he or she is to have a longer life expectancy.

Resources

Books

Beers, Mark H., and Robert Berkow, editors. Pediatrics. Whitehouse Station, NJ: Merck Research Laboratories, 1999.

Pyeritz, Reed E., and Cheryll Gasner. The Marfan Syndrome. New York: National Marfan Syndrome, 1999.

Key terms

Arachnodactyly — A condition characterized by abnormally long and slender fingers and toes.

Ectopia lentis — Dislocation of the lens of the eye. It is one of the most important single indicators in diagnosing Marfan syndrome.

Fibrillin — A protein that is an important part of the structure of the body's connective tissue. In Marfan's syndrome, the gene responsible for fibrillin has mutated, causing the body to produce a defective protein.

Hypermobility — Unusual flexibility of the joints, allowing them to be bent or moved beyond their normal range of motion.

Kyphosis — An abnormal outward curvature of the spine, with a hump at the upper back.

Pectus carinatum — An abnormality of the chest in which the sternum (breastbone) is pushed outward. It is sometimes called "pigeon breast."

Pectus excavatum — An abnormality of the chest in which the sternum (breastbone) sinks inward; sometimes called "funnel chest."

Scoliosis — An abnormal, side-to-side curvature of the spine.

---

syndrome /syn·drome/ (sin´drōm) a set of symptoms occurring together; the sum of signs of any morbid state; a symptom complex. See also entries under disease.

---

Aarskog syndrome , Aarskog-Scott syndrome a hereditary X-linked condition characterized by ocular hypertelorism, anteverted nostrils, broad upper lip, peculiar scrotal “shawl” above the penis, and small hands.

acquired immune deficiency syndrome , acquired immunodeficiency syndrome an epidemic, transmissible retroviral disease caused by infection with the human immunodeficiency virus, manifested in severe cases as profound depression of cell-mediated immunity, and affecting certain recognized risk groups. Diagnosis is by the presence of a disease indicative of a defect in cell-mediated immunity (e.g., life-threatening opportunistic infection) in the absence of any known causes of underlying immunodeficiency or of any other host defense defects reported to be associated with that disease (e.g., iatrogenic immunosuppression).

acute coronary syndrome  a classification encompassing clinical presentations ranging from unstable angina through non, sometimes also including Q wave infarction.

acute radiation syndrome  a syndrome caused by exposure to a whole body dose of over 1 gray of ionizing radiation; symptoms, whose severity and time of onset depend on the size of the dose, include erythema, nausea and vomiting, fatigue, diarrhea, petechiae, bleeding from the mucous membranes, hematologic changes, gastrointestinal hemorrhage, epilation, hypotension, tachycardia, and dehydration; death may occur within hours or weeks of exposure.

acute respiratory distress syndrome  (ARDS) fulminant pulmonary interstitial and alveolar edema, which usually develops within a few days after the initiating trauma, thought to result from alveolar injury that has led to increased capillary permeability.

acute retinal necrosis syndrome  necrotizing retinitis with uveitis and other retinal pathology, severe loss of vision, and often retinal detachment; of viral etiology.

Adams-Stokes syndrome  episodic cardiac arrest and syncope due to failure of normal and escape pacemakers, with or without ventricular fibrillation; the principal manifestation of severe heart attack.

addisonian syndrome  the complex of symptoms resulting from adrenocortical insufficiency; see Addison's disease, under disease.

Adie's syndrome  tonic pupil associated with absence or diminution of certain tendon reflexes.

adrenogenital syndrome  a group of syndromes in which inappropriate virilism or feminization results from disorders of adrenal function that also affect gonadal steroidogenesis.

adult respiratory distress syndrome  (ARDS) acute respiratory distress s.

AEC syndrome  Hay-Wells s.

afferent loop syndrome  chronic partial obstruction of the proximal loop (duodenum and jejunum) after gastrojejunostomy, resulting in duodenal distention, pain, and nausea following ingestion of food.

Ahumada-del Castillo syndrome  galactorrhea-amenorrhea syndrome with low gonadotropin secretion.

akinetic-rigid syndrome  muscular rigidity with varying degrees of slowness of movement; seen in parkinsonism and disorders of the basal ganglia.

Alagille syndrome  inherited neonatal jaundice, cholestasis with peripheral pulmonic stenosis, unusual facies, and ocular, vertebral, and nervous system abnormalities, due to paucity or absence of intrahepatic bile ducts.

Albright's syndrome , Albright-McCune-Sternberg syndrome polyostotic fibrous dysplasia, patchy dermal pigmentation, and endocrine dysfunction.

Aldrich's syndrome  Wiskott-Aldrich s.

Allgrove's syndrome  inherited glucocorticoid deficiency with achalasia and alacrima.

Alport's syndrome  a hereditary disorder marked by progressive nerve deafness, progressive pyelonephritis or glomerulonephritis, and occasionally ocular defects.

Alström syndrome  a hereditary syndrome of retinitis pigmentosa with nystagmus and early loss of central vision, deafness, obesity, and diabetes mellitus.

amnestic syndrome  a mental disorder characterized by impairment of memory occurring in a normal state of consciousness; the most common cause is thiamine deficiency associated with alcohol abuse.

amniotic band syndrome  see under sequence.

Angelman's syndrome  happy puppet s.

angular gyrus syndrome  a syndrome resulting from an infarction or other lesion of the angular gyrus on the dominant side, often characterized by alexia or agraphia.

ankyloblepharon–ectodermal dysplasia–clefting syndrome  Hay-Wells s.

anorexia-cachexia syndrome  a systemic response to cancer occurring as a result of a poorly understood relationship between anorexia and cachexia, manifested by malnutrition, weight loss, muscular weakness, acidosis, and toxemia.

anterior cord syndrome  anterior spinal artery s.

anterior interosseous syndrome  a complex of symptoms caused by a lesion of the anterior interosseous nerve, usually resulting from a fracture or laceration.

anterior spinal artery syndrome  localized injury to the anterior portion of the spinal cord, characterized by complete paralysis and hypalgesia and hypesthesia to the level of the lesion, but with relative preservation of posterior column sensations of touch, position, and vibration.

Apert's syndrome  acrocephalosyndactyly, type I; an autosomal dominant disorder characterized by acrocephaly and syndactyly, often with other skeletal deformities and mental retardation.

Asherman's syndrome  persistent amenorrhea and secondary sterility due to intrauterine adhesions and synechiae, usually as a result of uterine curettage.

Asperger's syndrome  a pervasive developmental disorder resembling autistic disorder, being characterized by severe impairment of social interactions and by restricted interests and behaviors; however, patients are not delayed in development of language, cognitive function, and self-help skills.

Barrett's syndrome  peptic ulcer of the lower esophagus, often with stricture, due to the presence of columnar-lined epithelium, which may contain functional mucous cells, parietal cells, or chief cells, in the esophagus instead of normal squamous cell epithelium.

Bartter syndrome  a hereditary form of hyperaldosteronism secondary to hypertrophy and hyperplasia of the juxtaglomerular cells, with normal blood pressure and hypokalemic alkalosis in the absence of edema, increased concentration of renin, angiotensin II, and bradykinin; usually occurring in children.

basal cell nevus syndrome  an autosomal dominant syndrome characterized by the development in early life of numerous basal cell carcinomas, in association with abnormalities of the skin, bone, nervous system, eyes, and reproductive tract.

Bassen-Kornzweig syndrome  abetalipoproteinemia.

battered-child syndrome  multiple traumatic lesions of the bones and soft tissues of children, often accompanied by subdural hematomas, willfully inflicted by an adult.

Beckwith-Wiedemann syndrome  an inherited disorder characterized by exomphalos, macroglossia, and gigantism, often associated with visceromegaly, adrenocortical cytomegaly, and dysplasia of the renal medulla.

Behçet's syndrome  severe uveitis and retinal vasculitis, optic atrophy, and aphtha-like lesions of the mouth and genitalia, often with other signs and symptoms suggesting a diffuse vasculitis; it most often affects young males.

Bernard-Soulier syndrome  a hereditary coagulation disorder marked by mild thrombocytopenia, giant and morphologically abnormal platelets, hemorrhagic tendency, prolonged bleeding time, and purpura.

Bing-Neel syndrome  the central nervous system manifestations of Waldenström's macroglobulinemia, possibly including encephalopathy, hemorrhage, stroke, convulsions, delirium, and coma.

Birt-Hogg-Dubé syndrome  an inherited disorder of proliferation of ectodermal and mesodermal components of the pilar system, occurring as multiple trichodiscomas, acrochordons, and fibrofolliculomas on the head, chest, back, and upper limbs.

Blackfan-Diamond syndrome  congenital hypoplastic anemia.

blue toe syndrome  skin necrosis and ischemic gangrene manifest as a blue color of the toes, resulting from arterial occlusion, usually caused by emboli, thrombi, or injury.

Boerhaave's syndrome  spontaneous rupture of the esophagus.

Börjeson's syndrome , Börjeson-Forssman-Lehmann syndrome a hereditary syndrome, transmitted as an X-linked recessive trait, characterized by severe mental retardation, epilepsy, hypogonadism, hypometabolism, marked obesity, swelling of the subcutaneous tissues of the face, and large ears.

bowel bypass syndrome  a syndrome of dermatosis and arthritis occurring some time after jejunoileal bypass, probably caused by immune reponse to bacterial overgrowth in the bypassed bowel.

Bradbury-Eggleston syndrome  a progressive syndrome of postural hypotension without tachycardia but with visual disturbances, impotence, hypohidrosis, lowered metabolic rate, dizziness, syncope, and slow pulse; due to impaired peripheral vasoconstriction.

bradycardia-tachycardia syndrome , brady-tachy syndrome a clinical manifestation of the sick sinus syndrome characterized by alternating periods of bradycardia and tachycardia.

Brown-Séquard syndrome  ipsilateral paralysis and loss of discriminatory and joint sensation, and contralateral loss of pain and temperature sensation; due to damage to one half of the spinal cord.

Brown-Vialetto-van Laere syndrome  an inherited syndrome of progressive bulbar palsy with any of several cranial nerve disorders.

Budd-Chiari syndrome  symptomatic obstruction or occlusion of the hepatic veins, causing hepatomegaly, abdominal pain and tenderness, intractable ascites, mild jaundice, and eventually portal hypertension and liver failure.

Caffey's syndrome , Caffey-Silverman syndrome infantile cortical hyperostosis.

Canada-Cronkhite syndrome  Cronkhite-Canada s.

capillary leak syndrome  extravasation of plasma fluid and proteins into the extravascular space, resulting in sometimes fatal hypotension and reduced organ perfusion; an adverse effect of interleukin-2 therapy.

carcinoid syndrome  a symptom complex associated with carcinoid tumors, marked by attacks of cyanotic flushing of the skin and watery diarrhea, bronchoconstrictive attacks, sudden drops in blood pressure, edema, and ascites. Symptoms are caused by tumor secretion of serotonin, prostaglandins, and other biologically active substances.

carotid sinus syndrome  syncope sometimes associated with convulsions due to overactivity of the carotid sinus reflex when pressure is applied to one or both carotid sinuses.

carpal tunnel syndrome  pain and burning or tingling paresthesias in the fingers and hand, sometimes extending to the elbow, due to compression of the median nerve in the carpal tunnel.

Median nerve entrapped in carpal tunnel in carpal tunnel syndrome.

Carpenter's syndrome  acrocephalopolysyndactyly, type II; an autosomal recessive disorder characterized by acrocephaly, polysyndactyly, brachydactyly, mild obesity, mental retardation, hypogonadism, and other anomalies.

central cord syndrome  injury to the central part of the cervical spinal cord resulting in disproportionately more weakness or paralysis in the upper limbs than in the lower; pathological change is caused by hemorrhage or edema.

cerebrocostomandibular syndrome  an inherited syndrome of severe micrognathia and costovertebral abnormalities, with palatal defects, prenatal and postnatal growth deficiencies, and mental retardation.

cerebrohepatorenal syndrome  a hereditary disorder, transmitted as an autosomal recessive trait, characterized by craniofacial abnormalities, hypotonia, hepatomegaly, polycystic kidneys, jaundice, and death in early infancy.

cervical rib syndrome  thoracic outlet syndrome caused by a cervical rib.

Cestan's syndrome , Cestan-Chenais syndrome an association of contralateral hemiplegia, contralateral hemianesthesia, ipsilateral lateropulsion and hemiasynergia, Horner's syndrome, and ipsilateral laryngoplegia, due to scattered lesions of the pyramid, sensory tract, inferior cerebellar peduncle, nucleus ambiguus, and oculopupillary center.

Charcot's syndrome 

1. amyotrophic lateral sclerosis.

2. intermittent claudication.

Charcot-Marie syndrome  Charcot-Marie-Tooth disease.

CHARGE syndrome  see under association.

Chédiak-Higashi syndrome  a lethal, progressive, autosomal recessive, systemic disorder associated with oculocutaneous albinism, massive leukocyte inclusions (giant lysosomes), histiocytic infiltration of multiple body organs, development of pancytopenia, hepatosplenomegaly, recurrent or persistent bacterial infections, and a possible predisposition to development of malignant lymphoma.

Chinese restaurant syndrome  transient arterial dilatation due to ingestion of monosodium glutamate, which is sometimes used liberally in seasoning Chinese food, marked by throbbing head, lightheadedness, tightness of the jaw, neck, and shoulders, and backache.

Chotzen's syndrome  acrocephalosyndactyly, type III; an autosomal dominant disorder characterized by acrocephaly and syndactyly in which the latter is mild and by hypertelorism, ptosis, and sometimes mental retardation.

Christ-Siemens-Touraine syndrome  anhidrotic ectodermal dysplasia.

chronic fatigue syndrome  persistent debilitating fatigue of recent onset, with greatly reduced physical activity and some combination of muscle weakness, sore throat, mild fever, tender lymph nodes, headaches, and depression, not attributable to any other known causes; it is of controversial etiology.

Churg-Strauss syndrome  allergic granulomatous angiitis; a systemic form of necrotizing vasculitis in which there is prominent lung involvement.

chylomicronemia syndrome  familial hyperchylomicronemia.

Coffin-Lowry syndrome  an X-linked syndrome of incapability of speech, severe mental deficiency, and muscle, ligament, and skeletal abnormalities.

Coffin-Siris syndrome  hypoplasia of the fifth fingers and toenails associated with growth and mental deficiencies, coarse facies, mild microcephaly, hypotonia, lax joints, and mild hirsutism.

compartmental syndrome  a condition in which increased tissue pressure in a confined anatomic space causes decreased blood flow leading to ischemia and dysfunction of contained myoneural elements, marked by pain, muscle weakness, sensory loss, and palpable tenseness in the involved compartment; ischemia can lead to necrosis resulting in permanent impairment of function.

congenital rubella syndrome  transplacental infection of the fetus with rubella, usually in the first trimester of pregnancy, as a consequence of maternal infection, resulting in various developmental anomalies in the newborn infant.

Conn's syndrome  primary aldosteronism.

cri du chat syndrome  a hereditary congenital syndrome characterized by hypertelorism, microcephaly, severe mental deficiency, and a plaintive catlike cry, due to deletion of the short arm of chromosome 5.

Crigler-Najjar syndrome  an autosomal recessive form of nonhemolytic jaundice due to absence of the hepatic enzyme glucuronide transferase, marked by excessive amounts of unconjugated bilirubin in the blood, kernicterus, and severe central nervous system disorders.

syndrome of crocodile tears  spontaneous lacrimation occurring parallel with the normal salivation of eating, and associated with facial paralysis; it seems to be due to straying of regenerating nerve fibers, some of those destined for the salivary glands going to the lacrimal glands.

Cronkhite-Canada syndrome  familial polyposis of the gastrointestinal tract associated with ectodermal defects such as alopecia and onychodystrophy.

Crow-Fukase syndrome  POEMS s.

crush syndrome  the edema, oliguria, and other symptoms of renal failure that follow crushing of a part, especially a large muscle mass; see lower nephron nephrosis, under nephrosis.

Cruveilhier-Baumgarten syndrome  cirrhosis with portal hypertension associated with congenital patency of the umbilical and paraumbilical veins.

Cushing's syndrome  a condition, more commonly seen in females, due to hyperadrenocorticism resulting from neoplasms of the adrenal cortex or anterior lobe of the pituitary; or to prolonged excessive intake of glucocorticoids for therapeutic purposes (iatrogenic Cushing's s. or Cushing's s. medicamentosus). The symptoms may include adiposity of the face, neck, and trunk, kyphosis caused by softening of the spine, amenorrhea, hypertrichosis (in females), impotence (in males), dusky complexion with purple markings, hypertension, polycythemia, pain in the abdomen and back, and muscular weakness.

Da Costa syndrome  neurocirculatory asthenia.

Dandy-Walker syndrome  congenital hydrocephalus due to obstruction of the foramina of Magendie and Luschka.

Dejean's syndrome  orbital floor s.

de Lange's syndrome  a congenital syndrome of mental retardation, short stature (Amsterdam dwarf), flat spadelike hands, and other anomalies.

dialysis dysequilibrium syndrome  symptoms such as headache, nausea, muscle cramps, nervous irritability, drowsiness, and convulsions during or after overly rapid hemodialysis or peritoneal dialysis, resulting from an osmotic shift of water into the brain.

disconnection syndrome  any neurologic disorder caused by an interruption in impulse transmission along cerebral fiber pathways.

Down syndrome  mongoloid features, short phalanges, widened space between the first and second toes and fingers, and moderate to severe mental retardation; associated with a chromosomal abnormality, usually trisomy of chromosome 21.

Drash syndrome  an inherited syndrome of Wilms' tumor with glomerulopathy and male pseudohermaphroditism.

Dubin-Johnson syndrome  hereditary chronic nonhemolytic jaundice thought to be due to defective excretion of conjugated bilirubin and certain other organic anions by the liver; a brown, coarsely granular pigment in hepatic cells is pathognomonic.

dumping syndrome  nausea, weakness, sweating, palpitation, syncope, often a sensation of warmth, and sometimes diarrhea, occurring after ingestion of food in patients who have undergone partial gastrectomy.

dyscontrol syndrome  a pattern of episodic abnormal and often violent and uncontrollable social behavior with little or no provocation; it may have an organic cause or be associated with abuse of a psychoactive substance.

dysmaturity syndrome  postmaturity s.

Eaton-Lambert syndrome  a myasthenia-like syndrome in which the weakness usually affects the limbs and ocular and bulbar muscles are spared; often associated with oat-cell carcinoma of the lung.

EEC syndrome  ectrodactyly–ectodermal dysplasia–clefting s.; an inherited congenital syndrome involving both ectodermal and mesodermal tissues, characterized by ectodermal dysplasia with hypopigmentation of skin and hair, and other hair, nail, tooth, lip, and palate abnormalities.

Ehlers-Danlos syndrome  a group of inherited disorders of connective tissue, varying in clinical and biochemical evidence, in mode of inheritance, and in severity from mild to lethal; major manifestations include hyperextensible skin and joints, easy bruisability, friability of tissues, bleeding, poor wound healing, subcutaneous nodules, and cardiovascular, orthopedic, intestinal, and ocular defects.

Eisenmenger's syndrome  ventricular septal defect with pulmonary hypertension and cyanosis due to right-to-left (reversed) shunt of blood. Sometimes defined as pulmonary hypertension (pulmonary vascular disease) and cyanosis with the shunt being at the atrial, ventricular, or great vessel area.

EMG syndrome  Beckwith-Wiedemann s.

Escobar syndrome  multiple pterygium s.

excited skin syndrome  nonspecific cutaneous hyperirritability of the back, sometimes occurring when multiple positive reactions are elicited in patch test screening of a battery of substances.

exomphalos-macroglossia-gigantism syndrome  Beckwith-Wiedemann s.

extrapyramidal syndrome  any of a group of clinical disorders considered to be due to malfunction in the extrapyramidal system and marked by abnormal involuntary movements; included are parkinsonism, athetosis, and chorea.

Faber's syndrome  hypochromic anemia.

Fanconi syndrome 

1. a rare hereditary disorder, transmitted as an autosomal recessive trait, characterized by pancytopenia, hypoplasia of the bone marrow, and patchy brown discoloration of the skin due to the deposition of melanin, and associated with multiple congenital anomalies of the musculoskeletal and genitourinary systems.

2. a general term for a group of diseases marked by dysfunction of the proximal renal tubules, with generalized hyperaminoaciduria, renal glycosuria, hyperphosphaturia, and bicarbonate and water loss; the most common cause is cystinosis, but it is also associated with other genetic diseases and occurs in idiopathic and acquired forms.

Farber syndrome , Farber-Uzman syndrome Farber's disease.

Felty's syndrome  a syndrome of splenomegaly with chronic rheumatoid arthritis and leukopenia; there are usually pigmented spots on the skin of the lower extremities, and sometimes there is other evidence of hypersplenism such as anemia or thrombocytopenia.

fetal alcohol syndrome  a syndrome of altered prenatal growth and morphogenesis, occurring in infants born of women who were chronically alcoholic during pregnancy; it includes maxillary hypoplasia, prominence of the forehead and mandible, short palpebral fissures, microophthalmia, epicanthal folds, severe growth retardation, mental retardation, and microcephaly.

fetal hydantoin syndrome  poor growth and development with craniofacial and skeletal abnormalities, produced by prenatal exposure to hydantoin analogues, including phenytoin.

floppy infant syndrome  abnormal posture in an infant suspended prone, the limbs and head hanging down; due to any of numerous conditions, particularly perinatal injury to the brain or spinal cord, spinal muscular atrophy, and various genetic disorders.

Foix-Alajouanine syndrome  a fatal necrotizing myelopathy characterized by necrosis of the gray matter of the spinal cord, thickening of the walls of the spinal vessels, and abnormal spinal fluid.

Franceschetti syndrome  the complete form of mandibulofacial dysostosis.

galactorrhea-amenorrhea syndrome  amenorrhea and galactorrhea, sometimes associated with increased levels of prolactin.

Ganser syndrome  the giving of approximate answers to questions, commonly associated with amnesia, disorientation, perceptual disturbances, fugue, and conversion symptoms.

Garcin's syndrome  unilateral paralysis of most or all of the cranial nerves due to a tumor at the base of the skull or in the nasopharynx.

Gardner's syndrome  familial polyposis of the colon associated with osseous and soft tissue tumors.

gay bowel syndrome  an assortment of sexually transmitted bowel and rectal diseases affecting homosexual males and others who engage in anal intercourse, caused by a wide variety of infectious agents.

general adaptation syndrome  the total of all nonspecific reactions of the body to prolonged systemic stress, comprising alarm, resistance, and exhaustion.

Gerstmann-Sträussler syndrome , Gerstmann-Sträussler-Scheinker syndrome a group of rare prion diseases of autosomal dominant inheritance, having the common characteristics of cognitive and motor disturbances, ending in death, and the presence of multicentric amyloid plaques in the brain.

Gianotti-Crosti syndrome  monomorphous, usually nonpruritic, dusky or coppery red, flat-topped, firm papules forming a symmetrical eruption on the face, buttocks, and limbs, including the palms and soles, with malaise and low-grade fever; seen in young children and associated with viral infection.

Gilles de la Tourette's syndrome  a childhood-onset syndrome comprising both multiple motor and one or more vocal tics, often associated with obsessions, compulsions, hyperactivity, distractibility, and impulsivity; it may diminish or even remit in adolescence or adulthood.

Goodpasture's syndrome  glomerulonephritis with pulmonary hemorrhage and circulating antibodies against basement membranes, usually seen in young men and with a course of rapidly progressing renal failure, with hemoptysis, pulmonary infiltrates, and dyspnea.

Gradenigo's syndrome  sixth nerve palsy and unilateral headache in suppurative disease of the middle ear, due to involvement of the abducens and trigeminal nerves by direct spread of the infection.

gray syndrome  a potentially fatal condition seen in neonates, particularly premature infants, due to a reaction to chloramphenicol, characterized by an ashen gray cyanosis, listlessness, weakness, and hypotension.

Guillain-Barré syndrome  acute idiopathic polyneuritis.

Gunn's syndrome  unilateral ptosis of the eyelid, with movements of the affected eyelid associated with those of the jaw.

Hamman-Rich syndrome  the acute form of idiopathic pulmonary fibrosis.

Hand-Schüller-Christian syndrome  see under disease.

hantavirus pulmonary syndrome  a sometimes fatal febrile illness caused by a hantavirus, characterized by variable respiratory symptoms followed by acute respiratory distress, sometimes progressing to respiratory failure.

happy puppet syndrome  an inherited syndrome of jerky puppetlike movements, frequent laughter, mental and motor retardation, peculiar open-mouthed facies, and seizures.

Harada syndrome  Vogt-Koyanagi-Harada s.

Hay-Wells syndrome  an inherited syndrome of ectodermal dysplasia, cleft lip and palate, and adhesions of the margins of the eyelids, accompanied by tooth, skin, and hair abnormalities.

HELLP syndrome  h emolysis, e levated l iver enzymes, and l ow p latelet count occurring in association with pre-eclampsia.

Helweg-Larsen's syndrome  an inherited syndrome of anhidrosis present from birth and labyrinthitis occurring late in life.

hemolytic uremic syndrome  a form of thrombotic microangiopathy with renal failure, hemolytic anemia, and severe thrombocytopenia and purpura.

Herrmann's syndrome  an inherited syndrome initially characterized by photomyogenic seizures and progressive deafness, with later development of diabetes mellitus, nephropathy, and mental deterioration.

HHH syndrome  hyperornithinemia-hyperammonemia-homocitrullinuria s.

Hinman syndrome  a psychogenic disorder seen in children, imitating a neurogenic bladder, consisting of detrusor-sphincter dyssynergia without evidence of neural lesion.

Horner syndrome , Horner-Bernard syndrome sinking in of the eyeball, ptosis of the upper lid, slight elevation of the lower lid, miosis, narrowing of the palpebral fissure, and anhidrosis and flushing of the affected side of the face; due to a brain stem lesion on the ipsilateral side that interrupts descending sympathetic nerves.

Hughes-Stovin syndrome  thrombosis of the pulmonary arteries and peripheral veins, characterized by headache, fever, cough, papilledema, and hemoptysis.

Hurler's syndrome  an inherited mucopolysaccharidosis due to deficiency of the enzyme α-l-iduronidase, characterized by gargoyle-like facies, dwarfism, severe somatic and skeletal changes, severe mental retardation, cloudy corneas, deafness, cardiovascular defects, hepatosplenomegaly, joint contractures, and death in childhood.

Hutchinson-Gilford syndrome  progeria.

hypereosinophilic syndrome  any of several diseases characterized by a massive increase in the number of eosinophils in the blood and bone marrow, with infiltration of other organs. Symptoms vary from mild to the often fatal outcome of eosinophilic leukemia.

hyperkinetic syndrome  former name for attention-deficit.

hyperornithinemia-hyperammonemia-homocitrullinuria syndrome  an inherited disorder characterized by elevated levels of ornithine, postprandial hyperammonemia and homocitrullinuria, and aversion to protein ingestion; believed to result from a defect in the transport of ornithine into the mitochondria, which disturbs the cycle of ureagenesis.

hyperventilation syndrome  a complex of symptoms that accompany hypocapnia caused by hyperventilation, including palpitations, shortness of breath, lightheadedness or giddiness, profuse perspiration, tingling sensations in the fingertips, face, or toes, and vasomotor collapse and loss of consciousness if prolonged.

hypoplastic left heart syndrome  congenital hypoplasia or atresia of the left ventricle, aortic or mitral valve, and ascending aorta, with respiratory distress, cardiac failure, and death in infancy.

impingement syndrome  progressive pathologic changes resulting from the impingement of the acromion, coracoacromial ligament, coracoid process, or acromioclavicular joint on the rotator cuff.

syndrome of inappropriate antidiuretic hormone  (SIADH) persistent hyponatremia, inappropriately elevated urine osmolality, caused by release of vasopressin (antidiuretic hormone) without discernible stimulus.

irritable bowel syndrome , irritable colon syndrome a chronic noninflammatory disease with a psychophysiologic basis, characterized by abdominal pain, diarrhea or constipation or both, and no detectable pathologic change.

Isaacs' syndrome , Isaacs-Mertens syndrome progressive muscle stiffness and spasms, with continuous muscle fiber activity similar to that seen with neuromyotonia.

Jacod's syndrome  chronic arthritis after rheumatic fever, with fibrous changes in the joint capsules leading to deformities that may resemble rheumatoid arthritis but lack bone erosion.

Jarcho-Levin syndrome  an inherited disorder of multiple vertebral defects, short thorax, rib abnormalities, camptodactyly, syndactyly, and sometimes urogenital abnormalities, usually fatal in infancy.

Joubert's syndrome  inherited, usually fatal, partial to complete agenesis of the cerebellar vermis, with hypotonia, episodic hyperpnea, mental retardation, and abnormal eye movements.

Kartagener's syndrome  a hereditary syndrome consisting of dextrocardia, bronchiectasis, and sinusitis.

Kimmelstiel-Wilson syndrome  intercapillary glomerulosclerosis in which the lesions are nodular.

King syndrome  a form of malignant hyperthermia accompanied by characteristic physical abnormalities.

Klinefelter's syndrome  smallness of testes with fibrosis and hyalinization of seminiferous tubules, variable degrees of masculinization, azoospermia, and infertility, and increased urinary gonadotropins. It is associated typically with an XXY chromosome complement although variants include XXYY, XXXY, XXXXY, and various mosaic patterns.

Klippel-Feil syndrome  shortness of the neck due to reduction in the number of cervical vertebrae or the fusion of multiple hemivertebrae into one osseous mass, with limitation of neck motion and low hairline.

Korsakoff's syndrome  a syndrome of anterograde and retrograde amnesia with confabulation associated with alcoholic or nonalcoholic polyneuritis, currently used synonymously with the term amnestic syndrome or, more narrowly, to refer to the amnestic component of the Wernicke-Korsakoff syndrome.

Kugelberg-Welander syndrome  an inherited juvenile form of muscular atrophy due to lesions on the anterior horns of the spinal cord, beginning with the proximal muscles of the lower limbs and pelvic girdle and progressing to the distal muscles.

LAMB syndrome  a syndrome of familial myomas with cutaneous, cardiac, and endocrine involvement, manifested as l entigines, a trial m yxoma, and b lue nevi.

Landau-Kleffner syndrome  an epileptic syndrome of childhood with partial or generalized seizures, psychomotor abnormalities, and aphasia progressing to mutism.

Launois' syndrome  pituitary gigantism.

Laurence-Moon syndrome  an autosomal recessive disorder characterized by mental retardation, pigmentary retinopathy, hypogonadism, and spastic paraplegia.

lazy leukocyte syndrome  a syndrome in children, marked by recurrent low-grade infections with a defect in neutrophil chemotaxis and deficient random mobility of neutrophils.

Lemieux-Neemeh syndrome  an inherited syndrome of Charcot-Marie-Tooth disease with progressive deafness.

Leriche syndrome  lower limb fatigue on exercising, lack of femoral pulse, impotence, and often pale, cold lower limbs, usually seen in males due to obstruction of the terminal aorta.

Lesch-Nyhan syndrome  an X-linked disorder of purine metabolism with physical and mental retardation, compulsive self-mutilation of fingers and lips by biting, choreoathetosis, spastic cerebral palsy, and impaired renal function, and by extremely excessive purine synthesis and consequently hyperuricemia and excessive urinary secretion of uric acid.

Li-Fraumeni syndrome  a familial syndrome of early breast carcinoma associated with soft tissue sarcomas and other tumors.

locked-in syndrome  quadriplegia and mutism with intact consciousness and preservation of some eye movements; usually due to a vascular lesion of the anterior pons.

long QT syndrome  prolongation of the Q–T interval combined with torsades de pointes and manifest in several forms, either acquired or congenital, the latter with or without deafness; it may lead to serious arrhythmia and sudden death.

Lowe syndrome , Lowe-Terrey-MacLachlan syndrome oculocerebrorenal s.

Lown-Ganong-Levine syndrome  a preexcitation syndrome of electrocardiographic abnormality characterized by a short P–R interval with a normal QRS complex, accompanied by atrial tachycardia.

Lutembacher's syndrome  atrial septal defect with mitral stenosis (usually rheumatic).

lymphadenopathy syndrome  unexplained lymphadenopathy for 3 or more months at extrainguinal sites, revealing on biopsy nonspecific lymphoid hyperplasia, possibly a prodrome of acquired immunodeficiency syndrome.

Maffucci's syndrome  enchondromatosis with multiple cutaneous or visceral hemangiomas.

malabsorption syndrome  a group of disorders marked by subnormal absorption of dietary constituents, and thus excessive loss of nutrients in the stool, which may be due to a digestive defect, a mucosal abnormality, or lymphatic obstruction.

male Turner's syndrome  Noonan's s.

Marfan syndrome  a hereditary syndrome of abnormal length of limbs, especially fingers and toes, with subluxation of the lens, cardiovascular abnormalities, and other defects.

Marie-Bamberger syndrome  hypertrophic pulmonary osteoarthropathy.

maternal deprivation syndrome  failure to thrive with severe growth retardation, unresponsiveness to the environment, depression, retarded mental and emotional development, and behavioral problems resulting from loss, absence, or neglect of the mother or other primary caregiver.

Meckel's syndrome  an autosomal recessive syndrome, with sloping forehead, posterior meningoencephalocele, polydactyly, polycystic kidneys, and death in the perinatal period.

meconium aspiration syndrome  the respiratory complications resulting from the passage and aspiration of meconium prior to or during delivery.

median cleft facial syndrome  a hereditary form of defective midline development of the head and face, including ocular hypertelorism, occult cleft nose and maxilla, and sometimes mental retardation or other defects.

megacystis-megaureter syndrome  chronic ureteral dilatation (megaureter) associated with hypotonia and dilatation of the bladder (megacystis) and gaping of ureteral orifices, permitting vesicoureteral reflux of urine, and resulting in chronic pyelonephritis.

megacystis-microcolon–intestinal hypoperistalsis syndrome  (MMIHS) enlarged bladder (megacystis), small colon with decreased or absent peristalsis (microcolon and intestinal hypoperistalsis), and the same abdominal muscle defect as occurs in prune-belly syndrome.

Meige syndrome 

1. Milroy's disease.

2. dystonia of facial and oromandibular muscles with blepharospasm, grimacing mouth movements, and protrusion of the tongue.

MELAS syndrome  a maternally-inherited syndrome of m itochondrial e ncephalopathy, l actic a cidosis, and s troke-like episodes.

Menkes' syndrome  an X-linked recessive disorder of copper absorption marked by severe cerebral degeneration and arterial changes resulting in death in infancy and by sparse, brittle scalp hair.

Meretoja's syndrome  a type of familial amyloid polyneuropathy.

MERRF syndrome  a maternally-inherited syndrome of m yoclonus with e pilepsy and with r agged r ed f ibers.

metabolic syndrome  a combination including at least three of the following: abdominal obesity, hypertriglyceridemia, low level of high-density lipoproteins, hypertension, and high fasting glucose level.

methionine malabsorption syndrome  an inborn aminoacidopathy marked by white hair, mental retardation, convulsions, attacks of hyperpnea, and urine with an odor like an oasthouse (for drying hops) due to alpha-hydroxybutyric acid formed by bacterial action on the unabsorbed methionine.

middle lobe syndrome  lobar atelectasis in the right middle lobe of the lung, with chronic pneumonitis.

Mikulicz's syndrome  chronic bilateral hypertrophy of the lacrimal, parotid, and salivary glands, associated with chronic lymphocytic infiltration; it may be associated with other diseases.

milk-alkali syndrome  hypercalcemia without hypercalciuria or hypophosphatemia and with only mild alkalosis and other symptoms attributed to ingestion of milk and absorbable alkali for long periods.

Milkman syndrome  a generalized bone disease marked by multiple transparent stripes of absorption in the long and flat bones.

Miller syndrome  an inherited syndrome of extensive facial and limb defects, sometimes accompanied by heart defects and hearing loss.

mitral valve prolapse syndrome  prolapse of the mitral valve, often with regurgitation; a common, usually benign, often asymptomatic condition characterized by midsystolic clicks and late systolic murmurs on auscultation.

Möbius' syndrome  agenesis or aplasia of cranial nerve motor nuclei in congenital bilateral facial palsy, with unilateral or bilateral paralysis of abductors of the eye and sometimes cranial nerve involvement and limb anomalies.

Mohr syndrome  an autosomal recessive disorder characterized by brachydactyly, clinodactyly, polydactyly, syndactyly, and bilateral hallucal polysyndactyly; by cranial, facial, lingual, palatal, and mandibular anomalies; and by episodic neuromuscular disturbances.

Morquio's syndrome  two biochemically distinct but clinically nearly indistinguishable forms of mucopolysaccharidosis, marked by genu valgum, pigeon breast, progressive flattening of the vertebral bodies, short neck and trunk, progressive deafness, mild corneal clouding, and excretion of keratan sulfate in the urine.

mucocutaneous lymph node syndrome  Kawasaki disease.

multiple endocrine deficiency syndrome , multiple glandular deficiency syndrome failure of any combination of endocrine glands, often accompanied by nonendocrine autoimmune abnormalities.

multiple pterygium syndrome  an inherited syndrome characterized by pterygia of the neck, axillae, and popliteal, antecubital, and intercrural areas, accompanied by facial, skeletal, and genital abnormalites.

Munchausen syndrome  a subtype of factitious disorder; habitual seeking of hospital treatment for apparent acute illness, the patient giving a plausible and dramatic history, all of which is false.

Munchausen syndrome by proxy  see factitious disorder by proxy, under disorder.

MVP syndrome  mitral valve prolapse s.

myelodysplastic syndrome  any of a group of related bone marrow disorders of varying duration preceding the development of overt acute myelogenous leukemia; characterized by abnormal hematopoietic stem cells, anemia, neutropenia, and thrombocytopenia.

myeloproliferative syndromes  see under disorder.

NAME syndrome  a syndrome of familial myxomas with cutaneous, cardiac, and endocrine involvement, manifested as n evi, a trial m yxoma, and neurofibroma e phelides.

Negri-Jacod syndrome  Jacod's s.

Nelson's syndrome  the development of an ACTH-producing pituitary tumor after bilateral adrenalectomy in Cushing's syndrome; it is characterized by aggressive growth of the tumor and hyperpigmentation of the skin.

nephrotic syndrome  any of a group of diseases involving defective kidney glomeruli, with massive proteinuria, lipiduria with edema, hypoalbuminemia, and hyperlipidemia.

nerve compression syndrome  entrapment neuropathy.

Noack syndrome  Pfeiffer's s.

nonstaphylococcal scalded skin syndrome  toxic epidermal necrolysis.

Noonan syndrome  webbed neck, ptosis, hypogonadism, and short stature, i.e., the phenotype of Turner's syndrome without the gonadal dysgenesis.

obesity-hypoventilation syndrome  pickwickian syndrome; a syndrome of obesity, somnolence, hypoventilation, and erythrocytosis.

occipital horn syndrome  the X-linked recessive form of cutis laxa.

oculocerebrorenal syndrome  an X-linked disorder marked by vitamin D–refractory rickets, hydrophthalmia, congenital glaucoma and cataracts, mental retardation, and renal tubule dysfunction as evidenced by hypophosphatemia, acidosis, and aminoaciduria.

oculodentodigital syndrome , ODD syndrome oculodentodigital dysplasia.

OFD syndrome  oral-facial-digital s.

Omenn's syndrome  histiocytic medullary reticulosis.

Opitz syndrome , Opitz-Frias syndrome a familial syndrome consisting of hypertelorism and hernias, and in males also characterized by hypospadias, cryptorchidism, and bifid scrotum. Cardiac, laryngotracheal, pulmonary, anal, and renal abnormalities may also be present.

oral-facial-digital syndrome  any of a group of congenital syndromes characterized by oral, facial, and digital anomalies. Type I, a male-lethal X-linked dominant disorder, is characterized by camptodactyly, polydactyly, and syndactyly; by cranial, facial, lingual, and dental anomalies; and by mental retardation, familial trembling, alopecia, and seborrhea of the face and milia; type II is Mohr s.; type III, an autosomal recessive disorder, characterized by postaxial hexadactyly, by ocular, lingual, and dental anomalies, and by profound mental retardation.

orbital floor syndrome  exophthalmos, diplopia, and anesthesia in the areas innervated by the trigeminal nerve, occurring with a lesion in the floor of the orbit.

organic anxiety syndrome  a term used in a former system of classification, denoting an organic mental syndrome marked by prominent, recurrent panic attacks or generalized anxiety caused by a specific organic factor and not associated with delirium.

organic brain syndrome  organic mental s.

organic delusional syndrome  a term used in a former system of classification, denoting an organic mental syndrome marked by delusions caused by a specific organic factor and not associated with delirium.

organic mental syndrome  former term for a constellation of psychological or behavioral signs and symptoms associated with brain dysfunction of unknown or unspecified etiology and grouped according to symptoms rather than etiology. See also under disorder.

organic mood syndrome  a term used in a former system of classification, denoting an organic mental syndrome marked by manic or depressive mood disturbance caused by a specific organic factor and not associated with delirium.

organic personality syndrome  a term used in a former system of classification, denoting an organic mental syndrome characterized by a marked change in behavior or personality, caused by a specific organic factor and not associated with delirium or dementia.

orofaciodigital syndrome  oral-facial-digital s.

Ortner syndrome  laryngeal paralysis associated with heart disease, due to compression of the recurrent laryngeal nerve between the aorta and a dilated pulmonary artery.

ovarian hyperstimulation syndrome  mild to severe ovarian enlargement with exudation of fluid and protein, leading to ascites, pleural or pericardial effusion, azotemia, oliguria, and thromboembolism in women undergoing ovulation induction.

ovarian vein syndrome  obstruction of the ureter due to compression by an enlarged or varicose ovarian vein; typically the vein becomes enlarged during pregnancy.

overlap syndrome  any of a group of connective tissue disorders that either combine scleroderma with polymyositis or systemic lupus erythematosus or combine systemic lupus erythematosus with rheumatoid arthritis or polymyositis.

overwear syndrome  extreme photophobia, pain, and lacrimation associated with contact lenses, particularly non–gas permeable hard lenses, usually caused by wearing them excessively.

pacemaker syndrome  vertigo, syncope, and hypotension, often accompanied by dyspnea, cough, nausea, peripheral edema, and palpitations, all exacerbated or caused by pacemakers that stimulate the ventricle and therefore do not maintain normal atrioventricular synchrony.

pacemaker twiddler's syndrome  twiddler's syndrome in a patient with an artificial cardiac pacemaker.

painful bruising syndrome  occurrence of one or more spontaneous, chronic recurring painful ecchymoses without antecedent trauma or after insufficient trauma; sometimes precipitated by emotional stress. Because certain patients exhibit autoerythrocyte sensitization in which intradermal injection of their own erythrocytes produces a painful ecchymosis, some consider the condition to be an autosensitivity to a component of the erythrocyte membrane; others consider it to be of psychosomatic or factitious origin.

Pancoast's syndrome 

1. neuritic pain and muscle atrophy in the upper limb, and Horner's syndrome, seen with a tumor near the apex of the lung when it involves the brachial plexus.

2. osteolysis in the posterior part of a rib or ribs, sometimes spreading to adjacent vertebrae.

paraneoplastic syndrome  a symptom complex arising in a cancer-bearing patient that cannot be explained by local or distant spread of the tumor.

Parinaud's syndrome  paralysis of conjugate upward movement of the eyes without paralysis of convergence; associated with tumors of the midbrain.

Parinaud's oculoglandular syndrome  a general term applied to conjunctivitis, usually unilateral and of the follicular type, followed by tenderness and enlargement of the preauricular lymph nodes; often due to leptotrichosis but may be associated with other infections.

parkinsonian syndrome  a form of parkinsonism due to idiopathic degeneration of the corpus striatum or substantia nigra; frequently a sequela of lethargic encephalitis.

PEP syndrome  POEMS s.

Pepper syndrome  neuroblastoma with metastases to the liver.

persistent müllerian duct syndrome  a hereditary syndrome in males of persistence of müllerian structures in addition to male genital ducts. There may be cryptorchidism on just one side with a contralateral inguinal hernia that contains a testis, uterus, and uterine tube (hernia uteri inguinalis).

Peutz-Jeghers syndrome  familial gastrointestinal polyposis, especially in the small bowel, associated with mucocutaneous pigmentation.

Pfeiffer syndrome  acrocephalosyndactyly, type V; an autosomal dominant disorder characterized by acrocephalosyndactyly associated with broad short thumbs and big toes.

pickwickian syndrome  obesity-hypoventilation s.

Pierre Robin syndrome  micrognathia with cleft palate, glossoptosis, and absent gag reflex.

plica syndrome  pain, tenderness, swelling, and crepitus of the knee joint, sometimes with weakness or locking of the joint, caused by fibrosis and calcification of the synovial plicae.

Plummer-Vinson syndrome  dysphagia with glossitis, hypochromic anemia, splenomegaly, and atrophy in the mouth, pharynx, and upper end of the esophagus.

POEMS syndrome  p olyneuropathy, o rganomegaly, e ndocrinopathy, M component, and s kin changes, sometimes linked to a dysproteinemia such as the presence of unusual monoclonal proteins and light chains.

polyangiitis overlap syndrome  a form of systemic necrotizing vasculitis resembling polyarteritis nodosa and allergic angiitis but also showing features of hypersensitivity vasculitis.

polycystic ovary syndrome  (PCOS) a clinical symptom complex associated with polycystic ovaries and characterized by oligomenorrhea or amenorrhea, anovulation (hence infertility), and hirsutism; both hyperestrogenism and hyperandrogenism are present.

polysplenia syndrome  a congenital syndrome of multiple splenic masses, abnormal position and development of visceral organs, complex cardiovascular defects, and abnormal, usually bilobate, lungs.

post–cardiac injury syndrome  fever, chest pain, pleuritis, and pericarditis weeks after injury to the heart, including that due to surgery (postpericardiotomy s.) and that due to myocardial infarction (post) .

postcardiotomy syndrome  postpericardiotomy s.

postcardiotomy psychosis syndrome  anxiety, confusion, and perception disturbances occurring three or more days after open heart surgery.

postcommissurotomy syndrome  postpericardiotomy s.

postconcussional syndrome  physical and personality changes that may occur after concussion of the brain, including amnesia, headache, dizziness, tinnitus, irritability, fatigability, sweating, heart palpitations, insomnia, and difficulty concentrating.

postgastrectomy syndrome  dumping s.

post–lumbar puncture syndrome  headache in the erect posture, sometimes with nuchal pain, vomiting, diaphoresis, and malaise, all relieved by recumbency, occurring several hours after lumbar puncture; it is due to lowering of intracranial pressure by leakage of cerebrospinal fluid through the needle tract.

postmaturity syndrome  a syndrome due to placental insufficiency that causes chronic stress and hypoxia, seen in fetuses and neonates in postterm pregnancies, characterized by decreased subcutaneous fat, skin desquamation, and long fingernails, often with yellow meconium staining of the nails, skin, and vernix.

post–myocardial infarction syndrome  post after myocardial infarction.

postpericardiotomy syndrome  post after surgery with opening of the pericardium.

Potter's syndrome  oligohydramnios sequence.

preexcitation syndrome  any syndrome with electrocardiographic signs of preexcitation, such as Wolff-Parkinson-White syndrome; sometimes used synonymously with it.

premenstrual syndrome  some or all of the symptoms of depressed, anxious, angry, or irritable mood, emotional lability, bloating, edema, headache, increased fatigue or lethargy, altered appetite or food cravings, breast swelling and tenderness, constipation, and decreased ability to concentrate occurring in the period between ovulation and the onset of menstruation.

prune-belly syndrome  a congenital syndrome of deficient or absent anterior abdominal wall musculature, urinary tract anomalies, and undescended testicles. The abdomen is protruding and thin-walled, with wrinkled skin.

Putnam-Dana syndrome  subacute combined degeneration of the spinal cord.

Raeder syndrome , Raeder paratrigeminal syndrome unilateral paroxysmal neuralgic pain in the face associated with Horner's syndrome.

Ramsay Hunt syndrome 

1. geniculate neuralgia; facial paralysis with otalgia and a vesicular eruption in the external canal of the ear, sometimes extending to the auricle, due to herpes zoster virus infection of the geniculate ganglion.

2. juvenile paralysis agitans (of Hunt).

3. dyssynergia cerebellaris progressiva.

Reiter syndrome  the triad of nongonococcal urethritis, conjunctivitis, and arthritis, frequently with mucocutaneous lesions.

respiratory distress syndrome of the newborn  a condition seen in infants born prematurely, by cesarean section, or to diabetic mothers, marked by dyspnea and cyanosis; a common, usually fatal subtype is hyaline membrane disease.

Reye's syndrome  a rare often fatal encephalopathy of childhood, marked by acute brain swelling with hypoglycemia, fatty infiltration of the liver, hepatomegaly, and disturbed consciousness and seizures, usually seen as a sequel of varicella or an upper airway viral infection.

Rh-null syndrome  chronic hemolytic anemia affecting individuals who lack all Rh factors (Rhnull); it is marked by spherocytosis, stomatocytosis, and increased osmotic fragility.

Riley-Day syndrome  familial dysautonomia.

Rosenberg-Bergstrom syndrome  an inherited syndrome of hyperuricemia, renal insufficiency, ataxia, and deafness.

Rukavina's syndrome  a type of familial amyloid polyneuropathy.

Rundles-Falls syndrome  hereditary sideroblastic anemia.

Ruvalcaba's syndrome  abnormal shortness of the metacarpal or metatarsal bones, hypoplastic genitalia, and mental and physical retardation of unkown etiology, present from birth in males.

Saethre-Chotzen syndrome  Chotzen's s.

salt-depletion syndrome , salt-losing syndrome vomiting, dehydration, hypotension, and sudden death due to very large sodium losses from the body. It may be seen in abnormal losses of sodium into the urine (as in congenital adrenal hyperplasia, adrenocortical insufficiency, or one of the forms of salt-losing nephritis) or in large extrarenal sodium losses, usually from the gastrointestinal tract.

Sanfilippo's syndrome  four biochemically distinct but clinically indistinguishable forms of mucopolysaccharidosis, characterized by urinary excretion of heparan sulfate, rapid mental deterioration, and mild Hurler-like symptoms, with death usually occurring before 20 years of age.

scalenus syndrome , scalenus anticus syndrome a type of thoracic outlet syndrome due to compression of the nerves and vessels between a cervical rib and the scalenus anticus muscle, with pain over the shoulder, often extending down the arm or radiating up the back.

Schaumann's syndrome  sarcoidosis.

Scheie's syndrome  a mild allelic variant of Hurler's syndrome, marked by corneal clouding, clawhand, aortic valve involvement, wide-mouthed facies, genu valgus, and pes cavus; stature, intelligence, and life span are normal.

second impact syndrome  acute, usually fatal, brain swelling and increased cranial pressure, caused by repeated head trauma in a short space of time, so that a second concussion occurs before recovery from a previous concussion is complete.

Sertoli-cell–only syndrome  congenital absence of the germinal epithelium of the testes, the seminiferous tubules containing only Sertoli cells, marked by testes slightly smaller than normal, azoospermia, and elevated titers of follicle-stimulating hormone and sometimes of luteinizing hormone.

severe acute respiratory syndrome  (SARS) an infectious respiratory illness characterized by fever, dry cough, and breathing difficulties, often accompanied by headache and body aches; believed to be caused by a coronavirus.

Sézary syndrome  a form of cutaneous T-cell lymphoma manifested by exfoliative erythroderma, intense pruritus, peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear cells in the skin, lymph nodes, and peripheral blood.

Sheehan's syndrome  postpartum pituitary necrosis.

short-bowel syndrome , short-gut syndrome any of the malabsorption conditions resulting from massive resection of the small bowel, the degree and kind of malabsorption depending on the site and extent of the resection; it is characterized by diarrhea, steatorrhea, and malnutrition.

shoulder-hand syndrome  reflex sympathetic dystrophy limited to the upper limb.

Shprintzen's syndrome  velocardiofacial s.

Shwachman syndrome , Shwachman-Diamond syndrome primary pancreatic insufficiency and bone marrow failure, characterized by normal sweat chloride values, pancreatic insufficiency, and neutropenia; it may be associated with dwarfism and metaphyseal dysostosis of the hips.

sick sinus syndrome  intermittent bradycardia, sometimes with episodes of atrial tachyarrhythmias or periods of sinus arrest, due to malfunction originating in the supraventricular portion of the cardiac conducting system.

Silver-Russell syndrome  a syndrome of low birth weight despite normal gestation duration, and short stature, lateral asymmetry, and some increase in gonadotropin secretion.

Sipple's syndrome  multiple endocrine neoplasia, type II.

Sjögren's syndrome  a symptom complex usually in middle-aged or older women, marked by keratoconjunctivitis sicca, xerostomia, and enlargement of the parotid glands; it is often associated with rheumatoid arthritis and sometimes with systemic lupus erythematosus, scleroderma, or polymyositis.

sleep apnea syndrome  sleep apnea.

Smith-Lemli-Opitz syndrome  an autosomal recessive syndrome of microcephaly, mental retardation, hypotonia, incomplete development of male genitalia, short nose with anteverted nostrils, and syndactyly of second and third toes.

social breakdown syndrome  deterioration of social and interpersonal skills, work habits, and behavior seen in chronically hospitalized psychiatric patients; due to the effects of long-term institutionalization rather than the primary illness.

stagnant loop syndrome  stasis s.

staphylococcal scalded skin syndrome  an infectious disease, usually affecting infants and young children, following infection with certain strains of Staphylococcus aureus, characterized by localized to widespread bullous eruption and exfoliation of the skin leaving raw, denuded areas that make the skin look scalded.

stasis syndrome  overgrowth of bacteria in the small intestine secondary to various disorders causing stasis; it is characterized by malabsorption of vitamin B12, steatorrhea, and anemia.

Steele-Richardson-Olszewski syndrome  a progressive neurological disorder with onset during the sixth decade, characterized by supranuclear ophthalmoplegia, especially paralysis of the downward gaze, pseudobulbar palsy, dysarthria, dystonic rigidity of the neck and trunk, and dementia.

Stein-Leventhal syndrome  polycystic ovary s.

Stevens-Johnson syndrome  a sometimes fatal form of erythema multiforme presenting with a flulike prodrome and characterized by severe mucocutaneous lesions; pulmonary, gastrointestinal, cardiac, and renal involvement may occur.

Stewart-Treves syndrome  lymphangiosarcoma occurring as a late complication of severe lymphedema of the arm after excision of the lymph nodes, usually in radical mastectomy.

stiff-man syndrome  a condition of unknown etiology marked by progressive fluctuating rigidity of axial and limb muscles in the absence of signs of cerebral and spinal cord disease but with continuous electromyographic activity.

stroke syndrome  stroke; a condition with sudden onset due to acute vascular lesions of the brain (hemorrhage, embolism, thrombosis, rupturing aneurysm), which may be marked by hemiplegia or hemiparesis, vertigo, numbness, aphasia, and dysarthria, and often followed by permanent neurologic damage.

Sturge's syndrome , Sturge-Kalischer-Weber syndrome, Sturge-Weber syndrome a congenital syndrome consisting of a port-wine stain type of nevus flammeus distributed over the trigeminal nerve accompanied by a similar vascular disorder of the underlying meninges and cerebral cortex.

subclavian steal syndrome  cerebral or brain stem ischemia due to vertebrobasilar insufficiency in cases of subclavian steal.

sudden infant death syndrome  sudden and unexpected death of an infant who had previously been apparently well, and which is unexplained by careful postmortem examination.

Swyer-James syndrome  acquired unilateral hyperlucent lung, with severe airway obstruction during exhalation, oligemia, and a small hilum.

tarsal tunnel syndrome  a complex of symptoms resulting from compression of the posterior tibial nerve or of the plantar nerves in the tarsal tunnel, with pain, numbness, and tingling paresthesia of the sole of the foot.

Taussig-Bing syndrome  transposition of the great vessels of the heart and a ventricular septal defect straddled by a large pulmonary artery.

testicular feminization syndrome  complete androgen resistance.

thoracic outlet syndrome  any of several neurovascular syndromes due to compression of the brachial plexus nerve trunks, with pain, paresthesias, vasomotor symptoms, and weakness and small muscle wasting in upper limbs; causes include drooping shoulder girdle, a cervical rib or fibrous band, an abnormal first rib, limb hyperabduction (as during sleep), or compression of the edge of the scalenus anterior muscle.

Tolosa-Hunt syndrome  unilateral ophthalmoplegia associated with pain behind the orbit and in the area supplied by the first division of the trigeminal nerve; it is thought to be due to nonspecific inflammation and granulation tissue in the superior orbital fissure or cavernous sinus.

TORCH syndrome  (t oxoplasmosis, o ther agents, r ubella, c ytomegalovirus, h erpes simplex) any of a group of infections seen in neonates as a result of the infectious agent having crossed the placental barrier.

Tourette's syndrome  Gilles de la Tourette's s.

Townes' syndrome  an inherited disorder of auricular anomalies, anal defects, limb and digit anomalies, and renal deficiencies, occasionally including cardiac disease, deafness, or cystic ovary.

toxic shock syndrome  a severe illness with sudden high fever, vomiting, diarrhea, and myalgia, followed by hypotension and, in severe cases, shock; a sunburn-like rash with skin peeling, especially on palms and soles, occurs during the acute phase. It primarily affects menstruating women using tampons, although a few women not using tampons and a few males have been affected. It is thought to be caused by infection with Staphylococcus aureus.

Treacher Collins syndrome  the incomplete form of mandibulofacial dysostosis.

trisomy 8 syndrome  a syndrome due to an extra chromosome 8, usually mosaic (trisomy 8/normal), with mild to severe mental retardation, prominent forehead, deep-set eyes, thick lips, prominent ears, and camptodactyly.

trisomy 11q syndrome  a variable syndrome due to an extra long arm of chromosome 11, possibly including preauricular fistulas, hypoplasia of the gallbladder, micropenis, bicornuate uterus, microphthalmos, malformations of the heart, lungs, and brain, seizures, and recurrent infection.

trisomy 13 syndrome  holoprosencephaly due to an extra chromosome 13, in which central nervous system defects are associated with mental retardation, along with cleft lip and palate, polydactyly, and dermal pattern anomalies, and abnormalities of the heart, viscera, and genitalia.

trisomy 18 syndrome  neonatal hepatitis, mental retardation, scaphocephaly or other skull abnormality, micrognathia, blepharoptosis, low-set ears, corneal opacities, deafness, webbed neck, short digits, ventricular septal defects, Meckel's diverticulum, and other deformities. It is due to an extra chromosome 18.

trisomy 21 syndrome  Down s.

Trousseau's syndrome  spontaneous venous thrombosis of upper and lower limbs associated with visceral carcinoma.

tumor lysis syndrome  severe hyperphosphatemia, hyperkalemia, hyperuricemia, and hypocalcemia after effective induction chemotherapy of rapidly growing malignant neoplasms.

Turcot's syndrome  familial polyposis of the colon associated with gliomas of the central nervous sytem.

Turner's syndrome  gonadal dysgenesis with short stature, undifferentiated (streak) gonads, and variable abnormalities such as webbing of neck, low posterior hair line, increased carrying angle of elbow, cubitus valgus, and cardiac defects. The genotype is XO (45, X) or X/XX or X/XXX mosaic. The phenotype is female.

twiddler's syndrome  dislodgement, breakdown, or other malfunction of an implanted diagnostic device as a result of unconscious or habitual manipulation by the patient.

twin transfusion syndrome , twin–twin transfusion syndrome one caused by twin-to-twin transfusion (q.v.); the donor twin is small, pale, and anemic, while the recipient is large and polycythemic, with an overloaded cardiovascular system.

Twin transfusion syndrome characterized by arteriovenous shunt at a shared placental cotyledon in diamniotic monochorionic twins.

urethral syndrome  symptoms associated with a urethral problem other than infection, including suprapubic aching and cramping, urinary frequency, and bladder complaints such as dysuria, tenesmus, and low back pain.

Usher's syndrome  an inherited syndrome of congenital deafness with retinitis pigmentosa, often ending in blindness; mental retardation and gait disturbances may also occur.

velocardiofacial syndrome  an inherited syndrome of cardiac defects and craniofacial anomalies, often with abnormalities of chromosome 22; learning disabilities often occur, and less often other abnormalities.

Vernet's syndrome  paralysis of the glossopharyngeal, vagus, and spinal accessory nerves due to a lesion in the region of the jugular foramen.

Vogt-Koyanagi-Harada syndrome  bilateral uveitis with iridocyclitis, exudative choroiditis, meningism, and retinal detachment, accompanied by alopecia, vitiligo, poliosis, loss of visual acuity, headache, vomiting, and deafness; possibly an inflammatory autoimmune disorder.

Waardenburg's syndrome  a hereditary, autosomal dominant disorder characterized by wide bridge of the nose due to lateral displacement of the inner canthi and puncta, pigmentary disturbances, including white forelock, heterochromia iridis, white eyelashes, leukoderma, and sometimes cochlear hearing loss.

WAGR syndrome  a syndrome of W ilms' tumor, a niridia, g enitourinary abnormalities or g onadoblastoma, and mental r etardation, due to a deletion in chromosome 11.

Walker-Warburg syndrome , Warburg's syndrome a usually fatal congenital syndrome of hydrocephalus, agyria, various ocular anomalies, and sometimes encephalocele.

Waterhouse-Friderichsen syndrome  the malignant or fulminating form of epidemic cerebrospinal meningitis, with sudden onset, short course, fever, collapse, coma, cyanosis, petechiae on the skin and mucous membranes, and bilateral adrenal hemorrhage.

Weber's syndrome  paralysis of the oculomotor nerve on the same side as the lesion, causing ptosis, strabismus, and loss of light reflex and accommodation; also spastic hemiplegia on the side opposite the lesion with increased reflexes and loss of superficial reflexes.

Weil's syndrome  a severe form of leptospirosis, marked by jaundice usually accompanied by azotemia, hemorrhage, anemia, disturbances of consciousness, and continued fever.

Werner's syndrome  premature aging of an adult, with early graying and some hair loss, cataracts, hyperkeratinization, muscular atrophy, scleroderma-like changes in the skin of the limbs, and a high incidence of neoplasm.

Wernicke-Korsakoff syndrome  a neuropsychiatric disorder caused by thiamine deficiency, most often due to alcohol abuse, combining the features of Wernicke's encephalopathy and Korsakoff's syndrome.

whiplash shake syndrome  subdural hematomas, retinal hemorrhage, and sometimes cerebral contusions caused by the stretching and tearing of cerebral vessels and brain substance, sometimes seen when a very young child is shaken vigorously by the limbs or trunk with the head unsupported; paralysis, visual disturbances, blindness, convulsions, and death may result.

Wilson-Mikity syndrome  a rare form of pulmonary insufficiency in low-birth-weight infants, with hyperpnea and cyanosis during the first month of life, sometimes ending in death; there are also radiologic abnormalities.

Wiskott-Aldrich syndrome  chronic eczema with chronic suppurative otitis media, anemia, and thrombocytopenic purpura, an immunodeficiency syndrome transmitted as an X-linked recessive trait, with poor antibody response to polysaccharide antigens and dysfunction of cell-mediated immunity.

withdrawal syndrome  substance withdrawal.

Wolf-Hirschhorn syndrome  a syndrome due to partial deletion of the short arm of chromosome 4, with microcephaly, ocular hypertelorism, epicanthus, cleft palate, micrognathia, low-set ears simplified in form, cryptorchidism, and hypospadias.

Wolff-Parkinson-White (WPW) syndrome  the association of paroxysmal tachycardia (or atrial fibrillation) and preexcitation, in which the electrocardiogram displays a short P–R interval and a wide QRS complex which characteristically shows an early QRS vector (delta wave).

Wyburn-Mason's syndrome  arteriovenous aneurysms on one or both sides of the brain, with ocular anomalies, facial nevi, and sometimes mental retardation.

syndrome X  angina pectoris or angina-like chest pain associated with normal arteriographic appearance of the coronary arteries.

Zollinger-Ellison syndrome  the association of atypical, intractable, sometimes fulminating, peptic ulcers with extreme gastric hyperacidity and benign or malignant gastrinomas in the pancreas.

---

Marfan syndrome,

n.pr a hereditary disorder of connective tissue characterized by tall stature, elongated extremities, subluxation of the lens, dilation of the ascending aorta, and “pigeon breast.” It is inherited as an autosomal dominant trait.

---

Marfan syndrome

An AD connective tissue disease with a prevalence of
1:10, 000; 25% occurs without parental defects, implying de novo mutation; MS expression varies by family affected Clinical Ocular–ectopia lentis, myopia, cardiovascular–dissection of ascending aorta, mitral valve prolapse, aortic valve regurgitation, skeletal–scoliosis, arachnodactyly, abnormally long fingers and extremities, pneumothorax, thickened skull, etc Treatment β-Adrenergic blockade–eg, with propranolol reportedly slows pace of aortic dilation and may ↓ aorta-related complications in some Pts with Marfan syndrome. See Fibrillin, FBN1.

---

Patient discussion about Marfan syndrome.

Q. My neighbor's kid had a lens dislocation due to Marfan's disease. Is this a contagious thing? My neighbor's have a sweet 8 year old boy. he had a lens dislocation due to a connective tissue disease named Marfan (I think that the name). It sounds like a very serious condition. My boy is playing with this kid several hour a week. should I take him to the GP to see that his is not infected with this marfan thing?

A. Don't worry. Marfan's syndrome is a connective tissue disease that is genetic. This means that You can't "get" this disease. Either you are borne with it or you will never suffer from it.
lens dislocation is a known symptom of marfan's syndrome, and is not connected to infectious diseases.

Q. A friend of mine is suffering from Marfan's syndrome. Should she do any test to check for an aneurysm? My friend is 26 years old and suffers from Marfan's syndrome for all her life. She was told she has a greater risk factor for having an aneurysm. Does she needs any screening for this condition?

A. Screening for aneurysms should be done if someone has a greater risk for it. In this case your friend should go to her GP and he will advise her about the frequency of the screening test.