Ehlers-Danlos syndrome

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Ehlers-Danlos Syndrome

 

Definition

The Ehlers-Danlos syndromes (EDS) refer to a group of inherited disorders that affect collagen structure and function. Genetic abnormalities in the manufacturing of collagen within the body affect connective tissues, causing them to be abnormally weak.

Description

Collagen is a strong, fibrous protein that lends strength and elasticity to connective tissues such as the skin, tendons, organ walls, cartilage, and blood vessels. Each of these connective tissues requires collagen tailored to meet its specific purposes. The many roles of collagen are reflected in the number of genes dedicated to its production. There are at least 28 genes in humans that encode at least 19 different types of collagen. Mutations in these genes can affect basic construction as well as the fine-tuned processing of the collagen.
EDS was originally described by Dr. Van Meekeren in 1682. Dr. Ehlers and Dr. Danlos further characterized the disease in 1901 and 1908, respectively. Today, according to the Ehlers-Danlos National Foundation, one in 5,000 to one in 10,000 people are affected by some form of EDS.
EDS is a group of genetic disorders that usually affects the skin, ligaments, joints, and blood vessels. Classification of EDS types was revised in 1997. The new classification involves categorizing the different forms of EDS into six major sub-types, including classical, hypermobility, vascular, kyphoscoliosis, arthrochalasia, and dermatosparaxis, and a collection of rare or poorly defined varieties. This new classification is simpler and based more on descriptions of the actual symptoms.

Classical type

Under the old classification system, EDS classical type was divided into two separate types: type I and type II. The major symptoms involved in EDS classical type are the skin and joints. The skin has a smooth, velvety texture and bruises easily. Affected individuals typically have extensive scaring, particularly at the knees, elbows, forehead, and chin. The joints are hyperextensible, giving a tendency towards dislocation of the hip, shoulder, elbow, knee, or clavicle. Due to decreased muscle tone, affected infants may experience a delay in reaching motor milestones. Children may have a tendency to develop hernias or other organ shifts within the abdomen. Sprains and partial or complete joint dilocations are also common. Symptoms can range from mild to severe. EDS classical type is inherited in an autosomal dominant manner.
There are three major clinical diagnostic criteria for EDS classical type. These include skin hyperextensibility, unusually wide scars, and joint hypermobility. At this time there is no definitive test for the diagnosis of classical EDS. Both DNA and biochemical studies have been used to help identify affected individuals. In some cases, a skin biopsy has been found to be useful in confirming a diagnosis. Unfortunately, these tests are not sensitive enough to identify all individuals with classical EDS. If there are multiple affected individuals in a family, it may be possible to perform prenatal diagnosis using a DNA information technique known as a linkage study.

Hypermobility type

Excessively loose joints are the hallmark of this EDS type, formerly known as EDS type III. Both large joints, such as the elbows and knees, and small joints, such as toes and fingers, are affected. Partial and total joint dislocations are common, and particularly involve the jaw, knee, and shoulder. Many individuals experience chronic limb and joint pain, although x rays of these joints appear normal. The skin may also bruise easily. Osteoarthritis is a common occurrence in adults. EDS hypermobility type is inherited in an autosomal dominant manner.
There are two major clinical diagnostic criteria for EDS hypermobility type. These include skin involvement (either hyperextensible skin or smooth and velvety skin) and generalized joint hypermobility. At this time there is no test for this form of EDS.

Vascular type

Formerly called EDS type IV, EDS vascular type is the most severe form. The connective tissue in the intestines, arteries, uterus, and other hollow organs may be unusually weak, leading to organ or blood vessel rupture. Such ruptures are most likely between ages 20 and 40, although they can occur any time, and may be life-threatening.
There is a classic facial appearance associated with EDS vascular type. Affected individuals tend to have large eyes, a thin pinched nose, thin lips, and a slim body. The skin is thin and translucent, with veins dramatically visible, particularly across the chest.
The large joints have normal stability, but small joints in the hands and feet are loose, showing hyperextensibility. The skin bruises easily. Other complications may include collapsed lungs, premature aging of the skin on the hands and feet, and ruptured arteries and veins. After surgery there tends to be poor wound healing, a complication that tends to be frequent and severe. Pregnancy also carries the risk complications. During and after pregnancy there is an increased risk of the uterus rupturing and of arterial bleeding. Due to the severe complications associated with EDS type IV, death usually occurs before the fifth decade. A study of 419 individuals with EDS vascular type, completed in 2000, found that the median survival rate was 48 years, with a range of six to 73 years. EDS vascular type is inherited in an autosomal dominant manner.
There are four major clinical diagnostic criteria for EDS vascular type. These include thin translucent skin, arterial/intestinal/uterine fragility or rupture, extensive bruising, and characteristic facial appearance. EDS vascular type is caused by a change in the gene COL3A1, which codes for one of the collagen chains used to build Collage type III. Laboratory testing is available for this form of EDS. A skin biopsy may be used to demonstrate the structurally abnormal collagen. This type of biochemical test identifies more than 95% of individuals with EDS vascular type. Laboratory testing is recommended for individuals with two or more of the major criteria.
DNA analysis may als be used to identify the change within the COL3A1 gene. This information may be helpful for genetic counseling purposes. Prenatal testing is available for pregnancies in which an affected parent has been identified and their DNA mutation is known or their biochemical defect has been demonstrated.

Kyphoscoliosis type

The major symptoms of kyphoscoliosis type, formerly called EDS type VI, are general joint looseness. At birth, the muscle tone is poor, and motor skill development is subsequently delayed. Also, infants with this type of EDS have an abnormal curvature of the spine (scoliosis). The scoliosis becomes progressively worse with age, with affected individuals usually unable to walk by age 20. The eyes and skin are fragile and easily damaged, and blood vessel involvement is a possibility. The bones may also be affected as demonstrated by a decrease in bone mass. Kyphoscoliosis type is inherited in an autosomal recessive manner.
There are four major clinical diagnostic criteria for EDS kyphoscoliosis type. These include generaly loose joints, low muscle tone at birth, scoliosis at birth (which worsens with age), and a fragility of the eyes, which may give the white area of the eye a blue tint or cause the eye to rupture. This form of EDS is caused by a change in the PLOD gene on chromosome 1, which encodes the enzyme lysyl hydroxylase. A laboratory test is available in which urinary hydroxylysyl pryridinoline is measured. This test, performed on urine is extremely senstive and specific for EDS kyphoscolios type. Laboratory testing is recommended for infants with three or more of the major diagnostic criteria.
Prenatal testing is available if a pregnancy is known to be at risk and an identified affected family member has had positive laboratory testing. An amniocentesis may be performed in which fetal cells are removed from the amniotic fluid and enzyme activity is measured.

Arthrochalasia type

Dislocation of the hip joint typically accompanies arthrochalasia type EDS, formerly called EDS type VIIB. Other joints are also unusually loose, leading to recurrent partial and total dislocations. The skin has a high degree of stretchability and bruises easily. Individuals with this type of EDS may also experience mildly diminished bone mass, scoliosis, and poor muscle tone. Arthrochalasia type is inherited in an autosomal dominant manner.
There are two major clinical diagnostic criteria for EDS arthrochalasia type. These include sever generalized joing hypermobility and bilateral hip dislocation present at birth. This form of EDS is caused by a change in either of two components of Collage type I, called proa1(I) type A and proa2(I) type B. A skin biopsy may be preformed to demonstrate an abnormality in either components. Direct DNA testing is also available.

Dermatosparaxis type

Individuals with this type of EDS, once called type VIIC, have extremely fragile skin that bruises easily but does not scar excessively. The skin is soft and may sag, leading to an aged appearance even in young adults. Individuals may also experience hernias. Dermatosparaxis type is inherited in an autosomal recessive manner.
There are two major clinical diagnostic criteria for EDS dematosparaxis type. These include severe skin fragility and sagging or aged appearing skin. This form of EDS is caused by a change in the enzyme called procollagen I N-terminal peptidase. A skin biopsy may be preformed for a definitive diagnosis of Dermatosparaxis type.

Other types

There are several other forms of EDS that have not been as clearly defined as the aforementioned types. Forms of EDS within this category may present with soft, mildly stretchable skin, shortened bones, chronic diarrhea, joint hypermobility and dislocation, bladder rupture, or poor wound healing. Inheritance patterns within this group include X-linked recessive, autosomal dominant, and autosomal recessive.

Causes and symptoms

There are numerous types of EDS, all caused by changes in one of several genes. The manner in which EDS is inherited depends on the specific gene involved. There are three patterns of inheritance for EDS: autosomal dominant, autosomal recessive, and X-linked (extremely rare).
Chromosomes are made up of hundreds of small units known as genes, which contain the genetic material necessary for an individual to develop and function. Humans have 46 chromosomes, which are matched into 23 pairs. Because chromosomes are inherited in pairs, each individual receives two copies of each chromosome and likewise two copies of each gene.
Changes or mutations in genes can cause genetic diseases in several different ways, many of which are represented within the spectrum of EDS. In autosomal dominant EDS, only one copy of a specific gene must be changed for a person to have EDS. In autosomal recessive EDS, both copies of a specific gene must be changed for a person to have EDS. If only one copy of an autosomal recessive EDS gene is changed the person is referred to as a carrier, meaning they do not have any of the signs or symptoms of the disease itself, but carry the possibility of passing on the disorder to a future child. In X-linked EDS a specific gene on the X chromosome must be changed. However, this affects males and females differently because males and females have a different number of X chromosomes.
The few X-linked forms of EDS fall under the category of X-linked recessive. As with autosomal recessive, this implies that both copies of a specific gene must be changed for a person to be affected. However, because males only have one X-chromosome, they are affected if an X-linked recessive EDS gene is changed on their single X-chromosome. That is, they are affected even though they have only one changed copy. On the other hand, that same gene must be changed on both of the X-chromosomes in a female for her to be affected.
Although there is much information regarding the changes in genes that cause EDS and their various inheritance patterns, the exact gene mutation for all types of EDS is not known.

Diagnosis

Clinical symptoms such as extreme joint looseness and unusual skin qualities, along with family history, can lead to a diagnosis of EDS. Specific tests, such as skin biopsies are available for diagnosis of certain types of EDS, including vascular, arthrochalasia, and dermatosparaxis types. A skin biopsy involves removing a small sample of skin and examining its microscopic structure. A urine test is available for the Kyphoscoliosis type.
Management of all types of EDS may include genetic counseling to help the affected individual and their family understand the disorder and its impact on other family members and future children.
If a couple has had a child diagnosed with EDS the chance that they will have another child with the same disorder depends on with what form of EDS the child has been diagnosed and if either parent is affected by the same disease or not.
Individuals diagnosed with an autosomal dominant form of EDS have a 50% chance of passing the same disorder on to a child in each pregnancy. Individuals diagnosed with an autosomal recessive form of EDS have an extremely low risk of having a child with the same disorder.
X-linked recessive EDS is accompanied by a slightly more complicated pattern of inheritance. If a father with an X-linked recessive form of EDS passes a copy of his X chromosome to his children, the sons will be unaffected and the daughters will be carriers. If a mother is a carrier for an X-linked recessive form of EDS, she may have affected or unaffected sons, or carrier or unaffected daughters, depending on the second sex chromosome inherited from the father.
Prenatal diagnosis is available for specific forms of EDS, including kyphosocliosis type and vascular type. However, prenatal testing is only a possibility in these types if the underlying defect has been found in another family member.

Treatment

Medical therapy relies on managing symptoms and trying to prevent further complications. There is no cure for EDS.
Braces may be prescribed to stabilize joints, although surgery is sometimes necessary to repair joint damage caused by repeated dislocations. Physical therapy teaches individuals how to strengthen muscles around joints and may help to prevent or limit damage. Elective surgery is discouraged due to the high possibility of complications.

Alternative treatment

There are anecdotal reports that large daily doses 0.04-0.14 oz (1-4 g) of vitamin C may help decrease bruising and aid in wound healing. Constitutional homeopathic treatment may be helpful in maintaining optimal health in persons with a diagnosis of EDS. An individual with EDS should discuss these types of therapies with their doctor before beginning them on their own. Therapy that does not require medical consultation involves protecting the skin with sunscreen and avoiding activities that place stress on the joints.

Prognosis

The outlook for individuals with EDS depends on the type of EDS with which they have been diagnosed. Symptoms vary in severity, even within one sub-type, and the frequency of complications changes on an individual basis. Some individuals have negligible symptoms while others are severely restricted in their daily life. Extreme joint instability and scoliosis may limit a person's mobility. Most individuals will have a normal lifespan. However, those with blood vessel involvement, particularly those with EDS vascular type, have an increased risk of fatal complications.
EDS is a lifelong condition. Affected individuals may face social obstacles related to their disease on a daily basis. Some people with EDS have reported living with fears of significant and painful skin ruptures, becoming pregnant (especially those with EDS vascular type), their condition worsening, becoming unemployed due to physical and emotional burdens, and social stigmatization in general.
Constant bruises, skin wounds, and trips to the hospital take their toll on both affected children and their parents. Prior to diagnosis parents of children with EDS have found themselves under suspicion of child abuse.
Some people with EDS are not diagnosed until well into adulthood and, in the case of EDS vascular type, occasionally not until after death due to complications of the disorder. Not only may the diagnosis itself be devastating to the family, but in many cases other family members find out for the first time they are at risk for being affected.
Although individuals with EDS face significant challenges, it is important to remember that each person is unique with their own distinguished qualities and potential. Persons with EDS go on to have families, to have careers, and to be accomplished citizens, surmounting the challenges of their disease.

Key terms

Arthrochalasia — Excessive loosness of the joints.
Blood vessels — General term for arteries, veins, and capillaries that transport blood throughout the body.
Cartilage — Supportive connective tissue that cushions bone at the joints or which connects muscle to bone.
Collagen — The main supportive protein of cartilage, connective tissue, tendon, skin, and bone.
Connective tissue — A group of tissues responsible for support throughout the body; includes cartilage, bone, fat, tissue underlying skin, and tissues that support organs, blood vessels, and nerves throughout the body.
Dermatosparaxis — Skin fragility caused by abnormal collagen.
Hernia — A rupture in the wall of a body cavity, through which an organ may protrude.
Homeopathic — A holistic and natural approach to healthcare.
Hyperextensibility — The ability to extend a joint beyond the normal range.
Hypermobility — Unusual flexibility of the joints, allowing them to be bent or moved beyond their normal range of motion.
Joint dislocation — The displacement of a bone.
Kyphoscoliosis — Abnormal front-to-back and side-to-side curvature of the spine.
Ligament — A type of connective tissue that connects bones or cartilage and provides support and strength to joints.
Osteoarthritis — A degenerative joint disease that causes pain and stiffness.
Scoliosis — An abnormal, side-to-side curvature of the spine.
Tendon — A strong connective tissue that connects muscle to bone.
Uterus — A muscular, hollow organ of the female reproductive tract. The uterus contains and nourishes the embryo and fetus from the time the fertilized egg is implanted until birth.
Vascular — Having to do with blood vessels.

Resources

Periodicals

"Clinical and Genetic Features of Ehlers-DanlosSyndrome Type IV, the Vascular Type." The New England Journal of Medicine 342, no. 10 (2000).
"Living a Restricted Life with Ehlers-DanlosSyndrome." International Journal of Nursing Studies 37 (2000): 111-118.

Organizations

Ehlers-Danlos Support Group-UK. PO Box 335, Farnham, Surrey, GU10 1XJ. UK 01252 690 940. http://www.atv.ndirect.co.uk.
Elhers-Danlos National Foundation. 6399 Wilshire Blvd., Ste 203, Los Angeles, CA 90048 (323) 651-3038. Fax: (323) 651-1366. http://www.ednf.org.

Other

GeneClinics. http://www.geneclinics.org.

cutis

 [ku´tis]
cutis anseri´na goose flesh.
cutis hyperelas´tica Ehlers-Danlos syndrome.
cutis lax´a a group of connective tissue disorders in which the skin hangs in loose pendulous folds, believed to be associated with decreased elastic tissue formation as well as an abnormality in elastin formation, and usually occurring as a hereditary disorder and occasionally in an acquired form.

Ehl·ers-Dan·los syn·drome (EDS),

(ā'lĕrz dahn-los'),
a group of connective tissue disorders characterized by hyperelasticity and fragility of the skin, hypermobility of the joints, and fragility of the cutaneous blood vessels and sometimes large arteries due to deficient quality or quantity of collagen; the most common types are inherited as autosomal dominant, caused by mutation in one of the following genes: the collagen V alpha-1 gene (COL5A1) on chromosome 9q or the collagen V alpha-2 gene (COL5A2) on 2q or COL3A1 gene on 2q.

Ehlers-Danlos syndrome

[ā′lərz dan′ləs]
Etymology: Edward Ehlers, Danish physician, 1863-1937; Henri A. Danlos, French physician, 1844-1912
a hereditary disorder of connective tissue, marked by hyperplasticity of skin, tissue fragility, and hypermotility of joints. Minor trauma may cause a gaping wound with little bleeding. Sprains, joint dislocations, and synovial effusions are common. However, life expectancy is usually normal. Treatment includes symptomatic therapy, emotional support for the patient and family, and emphasis on avoiding trauma in childhood.
enlarge picture
Skin laxity in Ehlers-Danlos syndrome

Ehl·ers-Dan·los syn·drome

(ā'lerz dahn'lōs sin'drōm)
An inherited disorder of connective tissue characterized by fragile hyperelastic skin and hypermobility of the joints. At least 14 variant forms have been identified and named.

Ehlers-Danlos syndrome

A genetic disorder in which the skin is abnormally elastic so that it may be greatly stretched. It is, however, unduly fragile and gapes widely when wounded. Joints are also unusually extensible. The condition is due to a widespread defect of polymerization of the protein collagen-one of the basic constructional materials of the body. (Edvard Ehlers, German dermatologist 1863–1937 and Henri Alexandre Danlos, French dermatologist, 1844–1932).

Ehlers,

Edvard L., Danish dermatologist, 1863-1937.
Ehlers-Danlos syndrome - a group of inherited generalized connective tissue diseases. Synonym(s): Meekeren-Ehlers-Danlos syndrome

Danlos,

Henri-Alexander, French dermatologist, 1844-1912.
Danlos phenomenon
Danlos syndrome
Ehlers-Danlos syndrome - see under Ehlers

Meekeren,

Job van, Dutch surgeon, 1611-1666.
Meekeren-Ehlers-Danlos syndrome - Synonym(s): Ehlers-Danlos syndrome

syndrome

aggregated objective signs, subjective symptoms and specific pathologies that typify specific conditions
  • acquired immunodeficiency syndrome; AIDS severe reduction in numbers of T4 lymphocyte helper (CD4) cells (due to infection with human immunodeficiency virus [HIV]) and resultant compromise of humoral and cell-mediated immunity; patients show lymphadenopathy, opportunistic infections (e.g. tinea and verrucae) and unusual infections (e.g. histoplasmosis, gastrointestinal tract candidiasis, Pneumocystis carnii pneumonia [PCP]), unusual malignancies (e.g. Kaposi's sarcoma), wasting diseases and presenile dementia

  • acute compartment syndrome; ACS increased lower-limb intracompartmental pressure on exercise (exercise expands muscles, increases intracompartmental pressures, inducing pain); treated initially by rest, immobilization, non-steroidal anti-inflammatory drugs; severe cases may require surgical decompression (fasciotomy)

  • anterior tarsal syndrome; ATS deep peroneal nerve entrapment at anterior ankle/dorsal talonavicular joint, due to restriction of ankle dorsiflexion (e.g. tight boots; ski boots), or local soft-tissue trauma (e.g. dorsal tarsal exostoses); characterized by extensor hallucis longus weakness, dorsal foot paraesthesia and numbness of first intermetatarsal space (symptoms can be induced by deep peroneal nerve percussion as crosses the anterior aspect of the ankle joint, or by ankle joint plantarflexion whilst simultaneously dorsiflexing toes)

  • anterior tibial compartment syndrome ischaemic necrosis of anterior compartment muscle fibres, due to local arterial compression by engorged muscles, after unaccustomed exertion

  • anterior tibiotalar impingement syndrome anterior ankle pain at ankle dorsiflexion (e.g. at midstance, just before heel lift) due to inferior tibial/neck of talus exostosis

  • Apert's syndrome type Ia acrocephalosyndactyly, characterized by features of Carpenter's syndrome, with lesser digital (2-5) fusion into one mass, usually with a common mega-nail

  • Apert-Crouzon syndrome type IIa acrocephalosyndactyly characterized by features of Carpenter's syndrome with additional craniofacial dysostosis, maxillary hypoplasia, and 2-4 digit fusion

  • Bazex syndrome; acrokeratosis paraneoplastica keratoderma (i.e. erythema, scaling and irritation) of skin of ears, nose, hands and feet and later generalized hyperkeratosis in men with underlying internal malignancy; condition regresses when underlying malignancy is resolved

  • Behçet's syndrome chronic vasculitic disease of unknown cause; characterized by seronegative arthritis of knees and ankles, elbows and wrists, mouth ulcers, erythema nodosum, visual impairment and cerebrovascular accident

  • benign familial joint hypermobility syndrome; BFJHS generalized joint hypermobility, diagnosed as 2 major/1 major + 2 minor/4 minor criteria (see Table 1) in the absence of Ehlers-Danlos syndrome, Marfan's syndrome and osteogenesis imperfecta

  • Brocq-Lyell syndrome; toxic epidermal necrolysis severe, acute, systemic drug reaction characterized by hyperpigmented skin lesions and epidermal detachment

  • Brown-Séquard syndrome hemiparaplegia and hyperaesthesia, with ipsilateral loss of stereognosis and contralateral hemianaesthesia; due to unilateral spinal cord lesion

  • carpal tunnel syndrome pain, paraesthesia and loss of power of palmar muscles; associated with rheumatoid arthritis

  • Carpenter's syndrome; acrocephalopolysyndactyly oxycephaly, bradysyndactyly and polydactyly of the feet, with learning difficulties

  • Charcot's syndrome see intermittent claudication

  • chronic compartment syndrome; CCS; chronic exertional compartment syndrome exercise-induced fascial compartment pain; caused by compromised circulation and relative ischaemia of intracompartmental tissues, with long-term muscle and nerve dysfunction and damage; recalcitrant cases require surgical decompression through fasciotomy (see syndrome, acute compartment)

  • compartment syndrome see syndrome, acute compartment; syndrome, chronic compartment

  • complex regional pain syndrome; CRPS; chronic regional pain syndrome neuroinflammatory dysfunction, due to ion interaction of nociceptive C-fibre nerve endings, the sympathetic nervous system and spinal cord efferent motor nerves; characterized by vasomotor instability, hyperalgesia and impaired motor function; diagnosed from clinical presentation, symptoms reduction on administration of sympathetic nerve blockade, and intense, focal periarticular uptake of contrast medium in a delayed imaging-phase bone scan; treated by early, aggressive physical therapy to prevent contracture and muscle wasting, symptomatic relief by sympathetic nerve blockade, non-steroidal anti-inflammatory drugs, tricyclic antidepressants and anticonvulsant medication; immobilization is contraindicated

  • complex regional pain syndrome type 1; CRPS 1; reflex sympathetic dystrophy; Sudek's atrophy; allodynia sympathetic nervous system-mediated acute pain and vasomotor instability, triggered by minor or surgical trauma without obvious nerve injury; affects women more than men; pain is excessive and out of proportion to severity of initiating injury; diagnosis is based on clinical symptoms aided by bone scan, laser Doppler studies and thermography; patients may show anxiety, depression and disturbed sleep; condition is difficult to manage; patients suspected of CRPS 1 should have early referral to a pain clinic (see Table 2); presents in three stages:

    • stage 1 acute phase, lasting 2-3 months, with regional severe burning pain, warmth and swelling triggered by stress/light touch, bone demineralization, skin trophic changes

    • stage 2 dystrophic phase/Sudek's atrophy; lasting for several months; characterized by constant unrelenting pain, exacerbated by any stimulus, and tissue cyanosis, coolness and induration, and diffuse osteoporosis

    • stage 3 atrophic phase, characterized by reduced/absent/intractable pain, irreversible atrophy of skin/subcutaneous tissues, flexion contractures of foot, advanced osteoporosis with a 'ground-glass' appearance on X-ray of affected bone

  • complex regional pain syndrome, type 2; CRPS 2; causalgia; sympathetic pain syndrome persistent and severe skin paraesthesia/burning sensations; caused by trauma to peripheral sensory nerve fibres; symptoms, progress and treatment are similar to that of CRPS 1

  • Conn's syndrome primary aldosteronism; characterized by headaches, thirst, nocturia, polyuria, hypovolaemia, fatigue, hypertension, alkalosis, and potassium depletion

  • constrictive band syndrome intrauterine development of deep, tight, circumferential folds around leg/foot, and compromised limb development distal to band (e.g. autoamputation; marked oedema of distal tissues); thought to relate to strands of amniotic membrane enwrapping the developing limb

  • Cushing's syndrome raised blood cortisol (e.g. due to pituitary tumour; long-term steroid therapy); characterized by central obesity, moon-like facies, acne, skin striae, hypertension, decreased carbohydrate tolerance and tendency to diabetes, female amenorrhoea and hirsutism

  • Down's syndrome chromosomal disorder (trisomy 21) characterized by congenital short stature, broad short hands/feet, characteristic facies (pronounced epicanthic skin folds, flat hypoplastic face, short nose, enlarged tongue), transverse palmar crease, very dry skin, learning difficulties; formerly termed mongolism

    Edwards' syndrome trisomy 18, with congenital characteristic facies (micrognathia, low-set ears), rocker-bottom feet, severe learning difficulties; affected children often die in early childhood

  • Ehlers-Danlos syndrome; Ehlers-Danlos diseases I-X hereditary connective tissue disorder characterized by collagen abnormality, marked generalized skin and blood vessel laxity, and joint hypermobility; skin is readily traumatized and heals slowly; see syndrome, hypermobility

  • Franconi's syndrome a form of anaemia associated with renal tubule dysfunction; adult Franconi's syndrome shows synostosis with osteomalacia, and acquired Franconi's syndrome is associated with multiple myeloma

  • Giles de la Tourette syndrome motor incoordination characterized by verbal, facial or limbic tics

  • Gorlin's syndrome multiple naevus-like basal cell carcinomata, causing small pits and depressions of palmar and plantar skin

  • Guillain-Barré syndrome; acute inflammatory polyneuropathy; acute idiopathic polyneuritis; infectious polyneuritis; postinfective polyneuropathy sudden-onset, acute, postviral polyneuritis; presents as distal pain, muscular weakness/flaccidity, paraesthesia; spreads proximally over 14-21 days; severe cases show spinal nerve involvement, with respiratory failure and limb paralysis (patient will require life support and anticoagulation to prevent deep-vein thrombosis); spontaneous recovery occurs over several weeks/months; some residual neuromotor effects may persist

  • Haglund's syndrome prominence of posterior superior lateral area of calcaneum, retrocalcaneal bursitis, Achilles tendon thickening and Achilles tendinitis; diagnostic rearfoot radiographic features include positive parallel pitch lines, loss of retrocalcaneal recess (indicating retrocalcaneal bursitis), Achilles tendon thickening, loss of distinct interface between Achilles tendon and pre-Achilles fat pad

  • heel pain syndrome see heel pain

  • heel spur syndrome see heel spur

  • Howel-Evans syndrome familial palmoplantar keratoderma, with increased risk of oesophageal cancer

  • Hurler's syndrome; lipochondrodystrophy; dysostosis multiplex autosomal-recessive inherited generalized lipid disturbance and mucopolysaccharoidosis, affecting cartilage, bone, skin, subcutaneous tissues, brain, liver and spleen; characterized by short stature, shortness of neck, trunk and digits, kyphosis, reduced joint mobility, learning difficulties, characteristic facies (so-called gargoylism) and visual impairment

  • hypermobility syndrome; joint hypermobility syndrome disordered collagen (types 1 and 3) structure, with associated decreased tensile strength of skin/structural tissues; characterized by generalized joint hypermobility, easy bruising, impaired healing, increasing incidence of joint/soft-tissue pain, joint dislocation and osteoarthritis; a presenting feature of benign familial joint hypermobility syndrome (BFJHS) (see Table 3), Ehlers-Danlos syndrome, Marfan syndrome and osteogenesis imperfecta

  • iliotibial band syndrome; ITBS; iliotibial band friction syndrome; ITBFS overuse-associated, friction-induced inflammation of ITB and associated bursa, where ITB moves over lateral femoral condyle (Gerdy's tubercle); due to repeated knee flexion and extension, especially in athletes/cyclists; presents as ITB pain at heel strike progressing to constant ITB pain; early-stage treatment includes a daily stretching programme (see Table 4) and application of heat (pre-exercise) and ice (postexercise) (see Table 5)

  • joint hypermobility syndrome see syndrome, hypermobility

  • lobster-claw syndrome extreme form of ectrodactyly; characterized by absence of third and fourth rays

  • Korsakoff's syndrome confusion and severe memory impairment with confabulation and Wernicke's syndrome, associated with chronic alcoholism

  • Lyell's syndrome drug-induced, acute skin sensitivity reaction; characterized by acute erythema, urticaria, vasculitis, purpura, marked exfoliation (peeling), flaccid bullae formation, subepidermal separation/detachment

  • Marfan's syndrome familial, autosomal-dominant, congenital changes in mesodermal and ectodermal tissues; characterized variably by musculoskeletal changes (e.g. increased height, excessive limb length, arachnodactyly; generalized tissue laxity and joint hypermobility), visual effects, and cardiovascular effects (e.g. aortic aneurysm)

  • medial tibial stress syndrome; MTSS; tibial fasciitis; shin splint muscle fatigue, reduced shock absorption, traction enthesiopathy and periostitis along anterior and posterior medial lower one-third of tibia (see Table 6) secondary to overuse/underpreparation for exercise; exacerbated by exercising on hard surfaces, especially in individuals who pronate excessively; treated by muscle-strengthening exercises, pre-exercise flexibility programme, modification of overall sports exercise programme (see Table 7), in conjunction with gait analysis, orthoses and correct shoe selection

  • Morquio's syndrome; type IV mucopolysaccharoidosis severe skeletal dysplasia including spine/thorax deformity, irregular epiphyses but normal shaft length of long bones, enlarged joints, flaccid ligaments, waddling gait and urinary abnormalities, due to autosomal-recessive error of mucopolysaccharide metabolism

  • Morton's syndrome congenital shortening of first metatarsal with apparent shortening of hallux and associated metatarsalgia

  • Munchausen's syndrome repeated fabrication of illness/symptoms of illness

  • Munchausen's syndrome by proxy repeated reporting of spurious illness/symptoms of illness by one person about another

  • musculoskeletal pain syndrome see polymyalgia rheumatica

  • nail-patella syndrome; hereditary arthrodysplasia autosomal-dominant abnormality of finger/toenails, absent/hypoplastic patella, defects of head of radius and iliac horns, and iris discoloration

  • nephrotic syndrome peripheral oedema, albuminuria, reduced plasma albumin (hypoalbuminaemia), refractory bodies in urine and raised blood cholesterol

  • nerve entrapment syndromes local nerve trunk compression (e.g. tibial, medial calcaneal lateral, first lateral branch of calcaneal, lateral plantar, high tibial, popliteal, deep peroneal, superficial, saphenous, sural or medial common hallucal nerves), as in tarsal/carpal tunnel syndromes, plantar digital neuritis, Morton's neuroma; characterized by distressing distal dermatomal sensory (e.g. pain and paraesthesia) and/or motor symptoms (e.g. muscle atrophy) (see Table 8)

  • Nievergelt-Pearlman syndrome rare autosomal-dominant bone disease causing lower-limb 'rhomboidal' tibia/fibula (crura rhomboidei), joint dysplasias, genu valgum, club foot, deformed toes; more common in males

  • overlap syndromes see mixed connective tissue diseases

  • patellofemoral joint syndrome see syndrome, runner's-knee

  • peroneal cuboid syndrome loss of rearfoot eversion due to long-standing peroneal tendon dysfunction/tendinitis; characterized by plantar pain from cuboid to first metatarsal

  • polycystic ovary syndrome see syndrome, Stein-Leventhal

  • Raynaud's syndrome concomitant Raynaud's disease (always affecting hands, and frequently feet) in patients with connective tissue disorders, characterized by generalized digital cyanosis, localized painful vasculitic lesions of dorsal forefoot (30% of cases) and apices of toes (20-25% of cases); subcutaneous calcinosis (20% of cases) may masquerade as a seed corn

  • Reiter's syndrome urethritis, iridocyclitis, arthritis, plantar enthesiopathy and heel spur formation, often triggered by earlier gastrointestinal Escherichia coli infection or exposure to a sexually transmitted disease (e.g. Chlamydia trachomatis); more common in human leukocyte antigen (HLA) B27 tissue-type males; see keratoderma blenorrhagicum

  • restless-leg syndrome overwhelming need to move the lower limbs constantly; characteristic of chronic renal failure; thought to be triggered by accumulation of metabolites and uraemia

  • Reye's syndrome cerebral oedema and death (in 50% of cases, usually children), provoked by aspirin therapy; aspirin is proscribed for children less than 16 years old

  • Riley-Day syndrome; familial dysautonomia autosomal-dominant complete indifference to pain; also characterized by orthostatic hypotension, hyperhidrosis and hyporeflexic/absent deep tendon reflexes, pes cavus and trophic plantar ulceration

  • Roussy-Levy syndrome; hereditary areflexic dystasia; Charcot-Marie-Tooth (CMT) disease type II essential tremor, sensory ataxia, poor coordination and judgement of movement, kyphoscoliosis and distal muscle atrophy (especially peronei); autosomal-dominant inherited disease similar to CMT disease type 1, but developing in early childhood

  • runner's-knee syndrome mild lateral subluxation of patella in patellar groove; due to an increase in Q angle (i.e. >15°), often in association with excessive foot pronation, tibial varum, internal tibial torsion, weakened quadriceps group, malposition of vastus medialis, hard running surfaces or faulty sports shoes, leading to uneven pressure on anterolateral surface of femoral condyle and local pain; often affects female runners; treated by prescription orthoses to reduce torque, torsion and knee joint stress

  • scalded-skin syndrome scaled/peeling appearance of skin overlying areas of infection, or associated with adverse drug reactions

  • 'second-class travel' syndrome pulmonary thromboembolism due to prolonged periods of inactivity, e.g. passengers (who have been static for > 4 hours during long-haul intercontinental air flights) develop deep-vein thrombosis; the clot detaches, passing through venous circulation and heart, to block the pulmonary artery; characterized by sudden collapse and death; passengers on long-haul flights are advised to undertake leg muscle exercises regularly throughout the duration of the flight, wear 'antithrombotic' elasticated hosiery and consider medication with aspirin in the weeks before long-haul flight

  • sinus tarsi syndrome sensation of unsteadiness when walking on gravel/uneven ground and ongoing pain in lateral tarsal area just distal to and level with lateral malleolus, subsequent to inversion sprain/excess rearfoot pronation (e.g. as in rearfoot rheumatoid arthritis); local symptoms are exacerbated by heel inversion/eversion; treated by non-steroidal anti-inflammatory drugs, local immobilization, orthoses or steroid injection

  • SjÖgren's syndrome; sicca syndrome; keratoconjunctivitis sicca oral mucous membranes dryness, loss of lacrimal secretion, facial telangiectasias (i.e. butterfly rash), bilateral parathyroiditis (in younger women), strongly associated with rheumatoid arthritis and Raynaud's phenomenon

  • Stein-Leventhal syndrome; polycystic ovary syndrome multiple ovarian cyst formation, with associated menstrual abnormalities, infertility, enlarged ovaries, insulin resistance, obesity, acne, evidence of masculinization (e.g. hirsuitism) and increased tendency to type 2 diabetes mellitus; responds to treatment with oral contraceptive pill and/or metformin

  • Stevens-Johnson syndrome widespread bullous erythema multiforme of skin/mucous membranes; due to hypersensitivity/drug reaction

  • talar compression syndrome posterior ankle pain when foot is maximally plantarflexed at ankle joint; due to compression of posterior tubercle of talus on posterior margin of distal end of tibia; note: similar condition occurs with os trigonum, which impinges on posteroinferior margin of tibia (see Table 9)

  • tarsal tunnel syndrome; TTS pain, paraesthesia and numbness in sole of foot; due to tibial nerve compression within tarsal tunnel; associated with excess foot pronation or rearfoot rheumatoid arthritis; symptoms reproduced by tapping the skin overlying distal medial malleolar area (Tinel's sign positive); conservative treatment includes valgus filler pads, cobra pads and medial heel wedges, or control of excessive rearfoot pronation with moulded cushioned orthoses worn with bespoke shoes, together with non-steroidal anti-inflammatory drugs and/or disease-modifying antirheumatic drugs; surgical treatment includes decompression procedures to free posterior tibial nerve and excise local fibrous structures (see tarsal tunnel)

  • distal tarsal tunnel syndrome isolated entrapment of medial/lateral plantar nerves; medial plantar nerve is compressed between navicular tuberosity and belly of abductor hallucis longus, causing 'jogger's foot'; first branch of lateral plantar nerve (Baxter's nerve) may be entrapped as it courses laterally between bellies of abductor hallucis and quadratus plantae (flexor accessories) muscles (see Table 10)

  • proximal tarsal tunnel syndrome entrapment of posterior tibial nerve/its branches deep to flexor retinaculum; due to excessive subtalar joint pronation (with narrowing of tarsal tunnel, e.g. in rheumatoid foot) due to entrapment within attachments of flexor retinaculum, compression by an enlarged abductor hallucis muscle belly, enlarged navicular tuberosity, accessory navicular, presence of os tibialis externum, ischaemic compromise of posterior tibial nerve, or varicosities within tarsal tunnel

  • trisomy 21 syndrome see syndrome, Down's

  • Turner's syndrome sex-chromosome (XO) abnormality affecting 1:2500 females, with characteristic morphology (web neck, short stature), infantilism and amenorrhoea, coarctation of aorta and peripheral oedema; feet are oedematous, short and broad, show excess subtalar joint pronation and hyperextended halluces; nails tend to involution, and affected subjects are prone to ingrowing nails

  • Werner's syndrome autosomal-recessive condition characterized by scleroderma-like skin, cataracts, progeria (premature senility), hypogonadism and diabetes mellitus

  • Wernicke's syndrome; Wernicke-Korsakoff syndrome; Wernicke's encephalopathy brainstem ischaemia causing nystagmus and other ocular effects, tremors and ataxia, mental confusion, hypothermia and hypotension; more common in chronic alcoholics

  • Wolff-Parkinson-White syndrome congenital atrioventricular interconnection causing tachycardia and characteristic electrocardiogram pattern

  • yellow-nail syndrome see nail, yellow

Table 1: The major and minor diagnostic criteria of benign familial joint hypermobility syndrome (BFJHS)
Major criteria
Current/historic Brighton score of 4/9
Arthralgia for >3/12 in four or more joints
Minor criteria
Current/historic Brighton score of 1, 2 or 3/9 (0, 1, 2, 3/9 if >50 years old)
Arthralgia for minimum of 3 months in 1-3 joints, or back pain for minimum of 3 months, or spondylosis/spondylolysis/spondylolisthesis
Dislocation/subluxation of > one joint, or one episode of simultaneous dislocation/subluxation of more than one joint
Three or more lesions of soft-tissue rheumatism (e.g. spondylitis, tenosynovitis, bursitis)
Marfanoid habitus (i.e. tall, slim physique, span:height ratio >1.3, upper:lower segment ratio <0.89, arachnodactyly [+Steinberg/wrist signs])
Abnormal skin: striae, hyperextensibility, thin skin, papyraceous scarring
Eye signs: drooping eyelids, myopia, antimongoloid slant
Varicose veins or hernia or uterine/rectal prolapse

Note: BFJHS is diagnosed in the presence of two major criteria, or one major and two minor criteria, or four minor criteria (adapted from Grahame R, Bird HA, Child A, Dolan AL, Fowler-Edwards A, Ferrell W, Gurley-Green S, Keer R, Mansi E, Murray K, Smith E. The British Society Special Interest Group on Heritable Disorders of Connective Tissue Criteria for the Benign Joint Hypermobility Syndrome. "The Revised (Brighton 1998) Criteria for the Diagnosis of the BJHS". Journal of Rheumatology 2000; 27:1777-1779).

Table 2: Features of complex regional pain syndrome
PhaseFeatures
Acute phase (duration: 2-3 months)
Reversible
Severe burning pain, warmth, swelling and joint stiffness within a limb: not confined to a dermatome or myotome
Bone demineralization
Symptoms (exacerbated by limb dependence, contact or stress) persist for 2-3 months
Chronic phase (duration: several months)
Reversible
Pain continues
The limb becomes cool, firm and cyanotic
Radiographs show diffuse osteoporosis
Digits develop flexure contractures
Persists for several months
Atrophic phase
Irreversible
Pain diminishes or becomes intractable
Skin and subcutaneous tissues become atrophic
Flexion contractures in foot become fixed
Osteoporosis becomes advanced; bone has a 'ground-glass' appearance
Table 3: The major and minor diagnostic criteria of benign familial joint hypermobility syndrome (BFJHS)
Major criteria
Current/historic Brighton score of 4/9
Arthralgia for >3/12 in four or more joints
Minor criteria
Current/historic Brighton score of 1, 2 or 3/9 (0, 1, 2, 3/9 if >50 years old)
Arthralgia for minimum of 3 months in 1-3 joints, or back pain for minimum of 3 months, or spondylosis/spondylolysis/spondylolisthesis
Dislocation/subluxation of > one joint, or one episode of simultaneous dislocation/subluxation of more than one joint
Three or more lesions of soft-tissue rheumatism (e.g. spondylitis, tenosynovitis, bursitis)
Marfanoid habitus (i.e. tall, slim physique, span:height ratio >1.3, upper:lower segment ratio <0.89, arachnodactyly [+Steinberg/wrist signs])
Abnormal skin: striae, hyperextensibility, thin skin, papyraceous scarring
Eye signs: drooping eyelids, myopia, antimongoloid slant
Varicose veins or hernia or uterine/rectal prolapse

Note: BFJHS is diagnosed in the presence of two major criteria, or one major and two minor criteria, or four minor criteria (adapted from Grahame R, Bird HA, Child A, Dolan AL, Fowler-Edwards A, Ferrell W, Gurley-Green S, Keer R, Mansi E, Murray K, Smith E. The British Society Special Interest Group on Heritable Disorders of Connective Tissue Criteria for the Benign Joint Hypermobility Syndrome. "The Revised (Brighton 1998) Criteria for the Diagnosis of the BJHS". Journal of Rheumatology 2000; 27:1777-1779).

Table 4: Iliotibial band-stretching regime
Muscle groupAction (hold for 5-10 seconds; repeat ×5, three times a day)
Hip abductorStand erect, legs straight, feet together; stretch trunk (on frontal plane) towards the unaffected leg
Iliotibial bandLie on a bench on the unaffected side, with the unaffected hip and knee slightly flexed, in order to maintain balance; flex the affected hip and straighten the affected knee so that the affected leg hangs off the bench; allow the iliotibial band of the affected leg to be stretched by gravitational pull
Lie on a bench on the affected side with the affected leg in line with the body and the hip and knee locked; flex the unaffected (upper) leg; place the hands on the bench immediately under the shoulder and push the trunk upwards as far as possible to apply stretch to the lateral area of the affected leg
Upper iliotibial bandStand erect; with affected leg behind normal leg; stretch trunk (on frontal plane) towards unaffected side
Lower iliotibial bandStand erect as above, with the knee of the affected leg slightly flexed and hips rotated (on transverse plane) towards affected leg; stretch trunk (on frontal plane) towards the unaffected side
Iliotibial band and hamstringsStand erect, with the affected leg behind the normal leg so that the knee of the affected leg rests on the posterior aspect of the non-affected knee; rotate the trunk (on transverse plane) away from the affected leg and attempt to touch the heel of the affected leg
Table 5: Treatment regime for iliotibial band syndrome
VisitAction
1Examination
Including Nobel's and Ober's tests, and excluding other causes of knee joint pain
Gait analysis - walking and running
Check for presence of tibial varum, tibial torsion, uncompensated rearfoot varus and limb length discrepancy (include shoe wear pattern)
Instigate the iliotibial band stretching regime (see Table 11), with a quadriceps- and adductor-strengthening programme
Ice massage to painful area at lateral aspect of knee Advise reduction in athletic activity
2Commence physical therapies, e.g. cortisone iontorphoresis or ultrasound and ice massageStabilizing orthoses and/or foot and ankle taping, ± heel lift
Continue stretching programme ± massage
Non-steroidal anti-inflammatory (10-day course of 400 mg ibuprofen qds)
Stop all athletic activity if pain does not resolve
3Magnetic resonance imaging/computed tomographic scan to knee joint areaRefer to orthopaedics

Most cases will resolve with one treatment; more severe cases will require a second visit and some will require orthopaedic referral.

Table 6: Iliotibial band-stretching regime
Muscle groupAction (hold for 5-10 seconds; repeat ×5, three times a day)
Hip abductorStand erect, legs straight, feet together; stretch trunk (on frontal plane) towards the unaffected leg
Iliotibial bandLie on a bench on the unaffected side, with the unaffected hip and knee slightly flexed, in order to maintain balance; flex the affected hip and straighten the affected knee so that the affected leg hangs off the bench; allow the iliotibial band of the affected leg to be stretched by gravitational pull
Lie on a bench on the affected side with the affected leg in line with the body and the hip and knee locked; flex the unaffected (upper) leg; place the hands on the bench immediately under the shoulder and push the trunk upwards as far as possible to apply stretch to the lateral area of the affected leg
Upper iliotibial bandStand erect; with affected leg behind normal leg; stretch trunk (on frontal plane) towards unaffected side
Lower iliotibial bandStand erect as above, with the knee of the affected leg slightly flexed and hips rotated (on transverse plane) towards affected leg; stretch trunk (on frontal plane) towards the unaffected side
Iliotibial band and hamstringsStand erect, with the affected leg behind the normal leg so that the knee of the affected leg rests on the posterior aspect of the non-affected knee; rotate the trunk (on transverse plane) away from the affected leg and attempt to touch the heel of the affected leg
Table 7: Grades and characteristics of medial tibial stress syndrome (MTSS)
GradeCharacteristic
1Pain on palpation of the anteromedial (or posteromedial) area of tibial crest
No pain during activity or exercise
2Pain after activity or exercise
No pain during activity or exercise
3Pain during activity or exercise
Pain after activity or exercise
4Pain and discomfort during normal walking
Continual pain during activity or exercise
Table 8: Phased treatment approach to medial tibial stress syndrome (MTSS)
PresentationTreatment
Phase 1: acute phaseCessation of exercise activity until all pain resolves RICE(P)
Phase 2: rehabilitation phaseDeep compartment muscle exercise to strengthen the deep fascial-bone interface and reduce tension on the deep fascial insertion, in order to decrease pain and swelling and prevent fascial scarring
Phase 3: functional phaseUse of antipronatory/functional orthoses, strapping or taping in order to strengthen the fascial-bone interphase and prevent further excessive tension on the tibia
Phase 4: return to activityPhased and gradual return to normal levels of activity
Table 9: Presentations of nerve trunk irritation in the foot
Neuroma/lesionInvolved nerveLocation
Proximal tarsal tunnel syndromeBranches of the posterior tibial nerveMedial ankle area
Distal tarsal tunnel syndrome Jogger's footMedial plantar nerveBetween navicular tuberosity and belly of abductor hallucis
Distal tarsal tunnel syndrome Baxter's neuritisLateral plantar nerveBetween bellies of abductor hallucis, quadratus plantae and abductor digiti quinti minimi
Joplin's neuromaMedial plantar nerve properMedial area of first metatarsal head
Houser's neuromaFirst plantar intermetatarsal nerveBetween 1 and 2 metatarsals
Heuter's neuromaSecond plantar intermetatarsal nerveBetween 2 and 3 metatarsals
Morton's neuromaThird plantar intermetatarsal nerveBetween 3 and 4 metatarsals
Islen's neuromaFourth plantar intermetatarsal nerveBetween 4 and 5 metatarsals
Table 10: Accessory bones in the foot
Accessory bone in the footLocation
Os tibiale externum (accessory navicular)Within tibialis posterior tendon, adjacent to proximal part of navicular tuberosity
Os trigonumPosterior margin of talus
Os peroneumWithin peroneus longus tendon, adjacent to inferior lateral border of cuboid/calcaneocuboid joint
Os vesalianumAdjacent to fifth metatarsal base
Os intermetatarseumBetween bases of first and second metatarsals
Os interphalangeusWithin insertion of flexor hallucis longus tendon, adjacent to plantar area of hallux interphalangeal joint
Table 11: Presentations of nerve trunk irritation in the foot
Neuroma/lesionInvolved nerveLocation
Proximal tarsal tunnel syndromeBranches of the posterior tibial nerveMedial ankle area
Distal tarsal tunnel syndrome Jogger's footMedial plantar nerveBetween navicular tuberosity and belly of abductor hallucis
Distal tarsal tunnel syndrome Baxter's neuritisLateral plantar nerveBetween bellies of abductor hallucis, quadratus plantae and abductor digiti quinti minimi
Joplin's neuromaMedial plantar nerve properMedial area of first metatarsal head
Houser's neuromaFirst plantar intermetatarsal nerveBetween 1 and 2 metatarsals
Heuter's neuromaSecond plantar intermetatarsal nerveBetween 2 and 3 metatarsals
Morton's neuromaThird plantar intermetatarsal nerveBetween 3 and 4 metatarsals
Islen's neuromaFourth plantar intermetatarsal nerveBetween 4 and 5 metatarsals

Ehl·ers-Dan·los syn·drome

(ā'lerz dahn'lōs sin'drōm)
Connective tissue disorders characterized by hyperelasticity and fragility of skin, hypermobility of joints, and fragility of cutaneous blood vessels.

Ehlers-Danlos syndrome (ā´lurz-dan´lus),

n.pr a hereditary disorder of connective tissue, marked by hyperplasticity of skin, tissue fragility, and hypermotility of joints. Minor trauma may cause a gaping wound with little bleeding. Sprains, dislocations, and synovial effusions are common. See also syndrome, Ehlers-Danlos.

Ehlers-Danlos syndrome

a congenital hereditary syndrome of joint hyperextensibility, hyperelasticity and fragility of the skin, poor wound healing leaving parchment-like scars, capillary fragility and subcutaneous nodules after trauma. Called also cutis hyperelastica, cutaneous asthenia, hereditary collagen dysplasia.
In humans a series of these disorders, listed as Ehlers-Danlos syndrome Type I to Type VII, represent different errors in collagen synthesis and maintenance with subsequent variations in clinical and pathological manifestations.
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