syndrome(redirected from Helweg-Larsen's syndrome)
Also found in: Dictionary, Thesaurus, Encyclopedia.
syn·drome(sin'drōm), This word is not properly applied to a solitary symptom or sign.
See also: disease.
syndromeMedtalk An aggregate of clinical Sx and/or lab findings that are characteristic of a particular condition or morbid process or occur together and constitute a recognizable condition. See A&V syndrome, Aarskog syndrome, Aase-Smith syndrome, Abortion trauma syndrome, Achard-Thiers syndrome, Achoo syndrome, Acute coronary syndrome, Acute HIV syndrome, Acute radiation injury syndrome, Acute urethral syndrome, Adult respiratory distress syndrome, Afferent loop syndrome, A/G syndrome, Aging face syndrome, Ahumanda del Castillo syndrome, Aicardi syndrome, AIDS syndrome, Albatross syndrome, Alcoholic flush syndrome, Alcoholic rose gardener syndrome, Aldrich syndrome, Alice in Wonderland syndrome, Alport syndrome, Alstrom syndrome, Alveolar-capillary block syndrome, Amenorrhea-galactorrhea syndrome, Amniotic band syndrome, Amotivational syndrome, Angelman syndrome, Angry back syndrome, Anterior cleavage syndrome, Anterior compartment syndrome, Anterior cord syndrome, Antimongoloid syndrome, Antiphospholipid antibody syndrome, Apert syndrome, Arthritis-dermatitis syndrome, Austrian syndrome, Baby bottle syndrome, BADS syndrome, Bardet-Biedl syndrome, Bare lymphocyte syndrome, Basal cell nevus syndrome, Battered buttock syndrome, Battered wife syndrome, Beauty parlor stroke syndrome, Beckwith-Wiedemann syndrome, Behavioral syndrome, Beradinelli syndrome, Bernard-Soulier syndrome, Bianchi syndrome, BIDS syndrome, Bile plug syndrome, Bile reflux syndrome, Black thyroid syndrome, Blind loop syndrome, Blind spot syndrome, Blue rubber bleb nevus syndrome, Blue sac syndrome, Blue toe syndrome, Blue valve syndrome, Bobble-headed doll syndrome, Boerhaave syndrome, Bone pointing syndrome, Bonnet syndrome, Bonnevie-Ullrich syndrome, Böök syndrome, Bradykinetic syndrome, Brain-bone-fat syndrome, Branching snowflake syndrome, Branchio-oto-renal syndrome, Breakage syndrome, Brittle cornea syndrome, Brittle hair syndrome, Bronze baby syndrome, Brown-Sequard syndrome, Brueghel syndrome, Brugada syndrome, Budd-Chiari syndrome, Bulldog syndrome, Burning feet syndrome, Burning tongue syndrome, Burnout syndrome, Caffeine dependence syndrome, Caffeine withdrawal syndrome, Call syndrome, Candidiasis hypersensitivity syndrome, Capillary leakage syndrome, Caplan syndrome, CAR syndrome, Carcinoid syndrome, Cardiovocal syndrome, Carpal tunnel syndrome, Cartilage-hair hypoplasia syndrome, Cat eye syndrome, CATCH-22 syndrome, Cauda equina syndrome, Cavernous sinus syndrome, Central cord syndrome, Central spinal cord syndrome, Cervical disk syndrome, Chediak-Higashi syndrome, Chérambault-Kandinsky syndrome, Cheshire cat syndrome, Chiari-Frommel syndrome, 'Chief, ' CHILD syndrome, China syndrome, China paralytic syndrome, Chinese restaurant syndrome, Christian syndrome, Christ-Siemens-Touraine syndrome, Chromosome breakage syndrome, Chronic exertional compartment syndrome, Chronic fatigue syndrome, Chubby puffer syndrome, Churg-Strauss syndrome, Chronic prostatitis/chronic pelvic pain syndrome, Chronic vascular syndrome, Chylomicronemia syndrome, Clenched fist syndrome, Clinical syndrome, Clumsy child syndrome, Cocaine rhabdomyolysis syndrome, Cocaine withdrawal syndrome, Cockayne syndrome, Cocktail party syndrome, Cogan syndrome, Compartment syndrome, Complex, Complex regional pain syndrome, Computer vision syndrome, Cornelia de Lange syndrome, Concentration camp syndrome, Condition, Continual late syndrome, Continuous gene syndrome, Conn syndrome, Cracked tooth syndrome, Cri-du-chat syndrome, Crigler-Najjar syndrome, Crocodile tear syndrome, Crossed syndrome, Crush syndrome, Culture-bound syndrome, Curtis Fitz Hugh syndrome, Cushing syndrome, Cytogenetic syndrome, Damocles syndrome, Dancing eyes-dancing feet syndrome, Dapsone syndrome, Dawson syndrome, Dead fetus syndrome, Dead hand syndrome, De Clérambault syndrome, Delayed sleep phase syndrome, Deletion syndrome, Delilah syndrome, Dengue shock syndrome, Denial syndrome, De Sanctis-Cacchione syndrome, Descending perineum syndrome, DeVaal syndrome, Diabetes-dermatitis syndrome, Diamond-Blackfan syndrome, DIDMOAD syndrome, Diencephalic syndrome of infancy syndrome, DiGeorge syndrome, Diogenes syndrome, Disaster syndrome, Disconnection syndrome, Disequilibrium syndrome, Disialotransferrin developmental syndrome, Disease, Disk syndrome, Dissociative syndrome, Distress syndrome, Distributed computing syndrome, DNA repair syndrome, Don Juan syndrome, Dorsal root ganglion syndrome, Dorito™ syndrome, Double crush syndrome, Down syndrome, Drash syndrome, Duane syndrome, Dubin-Johnson syndrome, Dubowitz syndrome, Dueling PhDs syndrome, Dumping syndrome, D0 syndrome, Duncan syndrome, Duplication 9p syndrome, Dyggve-Melchior-Claussen syndrome, Dysarthria-clumsy hand syndrome, Dysmenic syndrome, Dysmyelopoietic syndrome, Dysplastic nevus syndrome, Economy class syndrome, Ectopic ACTH syndrome, Ectopic Cushing syndrome, Ectopic hormonal syndrome, EEC syndrome, Ehlers-Danlos syndrome, Eisenmenger syndrome, Ellis-van Creveld syndrome, Emperor's New Clothes syndrome, Empty nest syndrome, Empty sella syndrome, Empty scrotum syndrome, Eosinophilic-myalgia syndrome, Epstein-Barr immunodeficiency syndrome, Epstein-Barr virus-associated hemophagocytic syndrome, Erysichthon syndrome, ETF syndrome, Euthyroid syndrome, Excision repair syndrome, Expanded rubella syndrome, Exploding head syndrome, Explosive syndrome, Extrapyramidal syndrome, Facet syndrome, Fat pad impingement syndrome, Family cancer syndrome, Family melanoma syndrome, Fat overload syndrome, Felty syndrome, Femoral facial syndrome, Fertile Eunuch syndrome, Fetal alcohol syndrome, Fetal distress syndrome, Fetal hydantoin syndrome, Fetal tobacco syndrome, Fetal trimethadione syndrome, Fetal varicella syndrome, Fetal warfarin syndrome, FG syndrome, Fibromyalgia syndrome, Filippi syndrome, Finnish congenital nephrotic syndrome, First arch syndrome, First use syndrome, Fisch-Renwick syndrome, Fish malodor syndrome, Fisher syndrome, Fisher-Volavsek syndrome, 5p- syndrome, Floating Harbor syndrome, Floppy baby syndrome, Floppy head syndrome, Folded lung syndrome, Foot & mouth syndrome, Foregut pain syndrome, Fourth venticle syndrome, Fragile X syndrome, Fragile X-E syndrome, Fraser syndrome, French congenital nephrotic syndrome, Fructose intolerance syndrome, Full house syndrome, Functional somatic syndrome, G syndrome, G deletion syndrome, GALOP syndrome, GAPO, Gardner syndrome, Gas-bloat syndrome, Gasping syndrome, Gay bowel syndrome, Gilbert syndrome, Ginseng abuse syndrome, Globoside dysfunction syndrome, Glucagonoma syndrome, Goldberg syndrome, Goldenhar syndrome, Golden-Kantor syndrome, Goldscheider syndrome, Golf war syndrome, Good child syndrome, Goodpasture syndrome, Gorlin-Moss-Chaudhry syndrome, Gourmand syndrome, Graham Little syndrome, GRANDDAD syndrome, Gray syndrome, Gray platelet syndrome, Green nail syndrome, Green stool syndrome, Growth hormone insensitivity syndrome, Guillain-Barré syndrome, Gulf War syndrome, Hallervorden-Spatz syndrome, HAM syndrome, Hamman-Rich syndrome, Hand-arm vibration syndrome, Hand, foot & mouth syndrome, Hand-foot syndrome, Hand-foot-flat face syndrome, Hand-foot-genital syndrome, Hantavirus pulmonary syndrome, Heel fat pad syndrome, HELLP syndrome, Hemi 3 syndrome, Hemispheric disconnection syndrome, Hemolytic-uremic syndrome, Hemophagocytic syndrome, Hepatopulmonary syndrome, Hepatorenal syndrome, Hereditary cancer syndrome, Hermansky-Pudlak syndrome, HFG syndrome, HGPRT deficiency syndrome, HHH syndrome, HHHH syndrome, HHHO syndrome, HIV wasting syndrome, HOHD syndrome, Holt-Oram syndrome, H2O syndrome, HOOD syndrome, Hormone resistance syndrome, Horner syndrome, Housebound syndrome, Hungry bone syndrome, Hunter syndrome, Hutchinson-Gilford syndrome, Hydrolethalus syndrome, Hypereosinophilic syndrome, Hyper-IgD syndrome, Hyper-IgE syndrome, Hyper-IgM immunodeficiency syndrome, Hyperinfection syndrome, Hyperinsulinism-hyperammonemia syndrome, Hypermobile joint syndrome, Hypersensitivity syndrome, Hyperventilation syndrome, Hyperviscosity syndrome, Hypoperfusion syndrome, Hypoplastic left heart syndrome, Idiopathic postprandial syndrome, Iliotibial band syndrome, Immotile cilia syndrome, Immunoglobulin M deficiency syndrome, Impingement syndrome, Inactive residual extremity syndrome, Infant nephrotic syndrome, Influenza syndrome, Inspissated bile syndrome, Inspissated milk syndrome, Intermediate syndrome, Intersex syndrome, Intestinal knot syndrome, Irregular sleep-wake syndrome, Irritable bowel syndrome, IVIC syndrome, Ivory tower syndrome, J syndrome, Jackpot syndrome, Jadassohn-Lewandowsky syndrome, Japan syndrome, Jarcho-Levin syndrome, Jekyll & Hyde syndrome, Jo-1 syndrome, Job syndrome, Joubert syndrome, Jumper syndrome, Jumping Frenchman syndrome, Kabuki mask syndrome, Kallmann syndrome, Kartagener syndrome, Kassabach-Merritt syndrome, Kearns-Sayre syndrome, KID syndrome, Kiesselbach syndrome, King syndrome, Kitamura syndrome, Kleine-Levin syndrome, Klinefelter syndrome, Klippel Feil syndrome, Klippel-Trenaunay-Weber syndrome, Kluver-Bucy syndrome, Kneist syndrome, Koala bear syndrome, Laband syndrome, Lady Godiva syndrome, LAMB syndrome, Lambert-Eaton syndrome, Landau-Kleffner syndrome, Langer-Giedion syndrome, Larsen syndrome, Late whiplash syndrome, Latent tetany syndrome, Laurence-Moon syndrome, Lazy bowel syndrome, Lazy leukocyte syndrome, Leaky gut syndrome, Lean cuisine syndrome, Lecithin-cholesterol acyl transferase deficiency syndrome, Leigh syndrome, Lennox-Gastaut syndrome, LEOPARD syndrome, Lesch-Nyhan syndrome, Leukocyte adhesion deficiency syndrome, Li-Fraumeni syndrome, Little omen syndrome, Locked in syndrome, Loin pain-hematuria syndrome, Long leg syndrome, Long Q-T syndrome, Lot syndrome, Low back syndrome, Low cardiac output syndrome, Low T4 syndrome, Lowe syndrome, Lown-Ganong-Levine syndrome, LUF syndrome, Luxury perfusion syndrome, Lymphangiomyomatosis syndrome, Maine syndrome, Mad Hatter syndrome, Magic pill syndrome, Malabsorption syndrome, Malignant hyperthermia syndrome, Malignant neuroleptic syndrome, Malpractice stress syndrome, Man-in-the-barrel syndrome, Marcus Welby syndrome, Marfan syndrome, Maternal deprivation syndrome, Mayo Clinic syndrome, McCune-Albright syndrome, Meconium aspiration syndrome, MEDAC syndrome, Medial tibial stress syndrome, Medical school syndrome, Meige syndrome, Meigs' syndrome, Melkerson-Rosenthal syndrome, Mendenhall syndrome, Menopausal syndrome, Mesenteric artery syndrome, Metabolic syndrome, Methionine malabsorption syndrome, Microdeletion syndrome, Middle lobe syndrome, Milk-alkali syndrome, Milkman syndrome, Mirror syndrome, Mitral valve prolapse syndrome, Mirizzi syndrome, Modigliani syndrome, Montgomery syndrome, Montreal platelet syndrome, Morning glory syndrome, Morquio syndrome, Moses syndrome, Moth ball syndrome, Mournier-Kuhn syndrome, Muir Torre syndrome, Multiple chemical sensitivities syndrome, Multiple cholesterol emboli syndrome, Multiple evanescent white dot syndrome, Multiple hamartoma syndrome, Multiple malformation syndrome, Multiple primary malignancy syndrome, Munchausen syndrome, Munchausenby-proxy syndrome, Murine acquired immunodeficiency syndrome, Myelodysplastic syndrome, Myofascial pain syndrome, Nail-patella syndrome, NASA syndrome, National Disaster Medical syndrome, 'Near miss' sudden infant death syndrome, Neck-face syndrome, Neck-tongue syndrome, Negative love syndrome, Neonatal withdrawal syndrome, Nephritic syndrome, Nephrotic syndrome, Nervous bowel syndrome, Neuroblastoma/IVS syndrome, Neurocutaneous syndrome, Neuroleptic malignant syndrome, Neutrophic dysfunction syndrome, Nonsense syndrome, Obstructive sleep apnea syndrome, Oculocerebrorenal syndrome, ODD syndrome, Olfactory reference syndrome, Omenn syndrome, One & one-half syndrome, Orange person syndrome, Organic brain syndrome, Organic mood syndrome, Ovarian vein syndrome, Overgrowth syndrome, Overlap syndrome, Overuse syndrome, Pacemaker syndrome, PAD syndrome, Padded dashboard syndrome, Page syndrome, Paget-Schroetter syndrome, Painful bruising syndrome, Painful fat syndrome, Painful leg & moving toes syndrome, Painful red leg syndrome, Pallister-Hall syndrome, Parana hard skin syndrome, Parinaud syndrome, Parkinson plus syndrome, Parrot syndrome, Parting of the Red Sea syndrome, Patellofemoral pain syndrome, Pearson syndrome, Peeling skin syndrome, Pelvic congestion syndrome, Pepper syndrome, Periodic fever syndrome, Perlman syndrome, Persistent müllerian duct syndrome, Peter Pan syndrome, Peutz-Jegher syndrome, Phantom limb syndrome, Physician invulnerability syndrome, Pickwick syndrome, PIE syndrome, Pigment dispersion syndrome, Piriformis syndrome, Plummer-Vinson syndrome, POEMS syndrome, Poland syndrome, Polonowski syndrome, Polyglandular autoimmune syndrome, Popeye syndrome, Popliteal pterygium syndrome, Postconcussive syndrome, Post-gastrectomy syndrome, Postmyocardial infarction syndrome, Postperfusion syndrome, Postpericardiotomy syndrome, Post-polio syndrome, Postpump syndrome, Post-resuscitation syndrome, Post-splenectomy syndrome, Postal worker syndrome, Posterior cord syndrome, Potter syndrome, Power Breakfast syndrome, Prader-Willi syndrome, Premenstrual syndrome, Prisoner of war syndrome, Proteus syndrome, Prostatitis syndrome, Prune belly syndrome, pseudo-Bartter syndrome, Pseudo-Cushing syndrome, Pseudo-Hurler syndrome, Pseudonym syndrome, Pseudo-Turner syndrome, PSL syndrome, Psychogenic syndrome, Psycho-organic syndrome, PUGH syndrome, Pulmonary hemorrhagic syndrome, Pulmonary renal syndrome, Punch drunk syndrome, Purple glove syndrome, Purple people syndrome, Purple urine bag syndrome, Quadruple syndrome, Quasimodo syndrome, Rabbit syndrome, Rabson-Mendenhall syndrome, RAPADILINO syndrome, Rape trauma syndrome, Rapunzel syndrome, Reactive hemophagocytic syndrome, Red cell fragmentation syndrome, Red diaper syndrome, Red man syndrome, Reiter's syndrome, Respiratory distress syndrome, Respiratory syndrome, Restless legs syndrome, Retained acid syndrome, Retained antrum syndrome, Retirement syndrome, Reversible posterior leukoencephalopathy syndrome, Revolving door syndrome, Reye syndrome, Rh syndrome, Rib-tip syndrome, Rieger syndrome, Right ovarian vein syndrome, Rigid spine syndrome, Riley-Smith syndrome, Rodney Dangerfield syndrome, Rosewater syndrome, RS3PE syndrome, Rubinstein-Taybi syndrome, Rumination syndrome, Russell-Silver syndrome, Sanfilippo syndrome, Santos syndrome, SAPHO syndrome, Savannah syndrome, Scarlet O'Hara syndrome, Scheie syndrome, Schnitzler syndrome, Scimitar syndrome, Sclerosteosis syndrome, Seat belt syndrome, Sebright bantam syndrome, Second impact syndrome, Sepsis syndrome, Sequence, Serotonin syndrome, Sexing-stealing-lying syndrome, Sézary syndrome, Shaken baby syndrome, Sheehan syndrome, Shift syndrome, Shift work maladaptation syndrome, Short bowel syndrome, Short PR syndrome, Short rib polydactyly syndrome, Shoulder-girdle syndrome, Shoulder-hand syndrome, Shoulder pointer syndrome, Shprintzen syndrome, Shy-Drager syndrome, Shwachman syndrome, SIADH syndrome, Sick building syndrome, Sick cell syndrome, Sick Santa syndrome, Sick sinus syndrome, Sickle chest syndrome, SIDS syndrome, Sisyphus syndrome, Sjögren syndrome, Sleep apnea syndrome, slow channel syndrome, SLUDGE syndrome, Small syndrome, Small capacity syndrome, Small cuff syndrome, Small left colon syndrome, Small meal syndrome, Smith-Lemli-Opitz syndrome, Sneddon syndrome, Social breakdown syndrome, Solitary rectal ulcer syndrome, Somatostatinoma syndrome, Sorsby syndrome, Sotos syndrome, Space adaptation syndrome, Specificity spillover syndrome, Spinal vasculature steal syndrome, Splenic flexure syndrome, Spotted leg syndrome, Squash drinking syndrome, Squat jump syndrome, Staphylococcal scalded skin syndrome, Steakhouse syndrome, Steering wheel syndrome, Stevens-Johnson syndrome, Stewart-Treves syndrome, Stick-man syndrome, Stiff baby syndrome, Stiff heart syndrome, Stiff man syndrome, Stiff skin syndrome, Still syndrome, Stockholm syndrome, Stokes-Adams syndrome, Stone heart syndrome, Straight back syndrome, Straw Peter syndrome, Streptococcal sex syndrome, Subclavian steal syndrome, Subcutaneous insulin-resistance syndrome, Submersion syndrome, Subphrenic interposition syndrome, Subwakefulness syndrome, Suits & suites syndrome, Sump syndrome, Sundown syndrome, Superior mesenteric artery syndrome, Superior vena cava syndrome, Superwoman syndrome, Suspended heart syndrome, Sweet syndrome, Systemic inflammatory response syndrome, Taffy candy syndrome, Talk and die syndrome, TAR syndrome, Tarsal tunnel syndrome, Television intoxication syndrome, Tenosynovitis-dermatitis syndrome, Tendon sheath syndrome, Terminal illness syndrome, Terminal reservoir syndrome, Testicular feminization syndrome, Tethered (spinal) cord syndrome, Thalamic syndrome, Third diabetic syndrome, Thoracic outlet syndrome, 3/B translocation syndrome, Thucydides syndrome, TMJ syndrome, Tn syndrome, Tobacco withdrawal syndrome, Tolosa-Hunt syndrome, Top of the basilar syndrome, Torture syndrome, Tourette syndrome, Toxic oil syndrome, Toxic shock-like syndrome, Toxic shock syndrome, Toxic sock syndrome, Trapped egg syndrome, Treacher-Collins syndrome, Trichodentoosseous syndrome, Tropical immersion foot syndrome, Tropical splenomegaly syndrome, Trotter syndrome, Tryptophan malabsorption syndrome, Tumor lysis syndrome, Turcot syndrome, Turner syndrome, Twin-to-twin transfusion syndrome, Two hand-one foot syndrome, Ulnar tunnel syndrome, Ulysses syndrome, Uncombable hair syndrome, Urethral syndrome, Usher syndrome, VACTERYL syndrome, Van Gogh syndrome, Vanishing bile duct syndrome, Vanishing diabetes mellitus syndrome, Vanishing lung syndrome, VATER syndrome, Venus syndrome, Vibration white finger syndrome, Vietnam syndrome, VIPoma syndrome. V.I.P. syndrome, Viral hemorrhagic fever syndrome, Virus-associated hemophagocytic syndrome, Vitamin B6-dependency syndrome, Vogt-Koyanagi(-Harada) syndrome, Vulnerable child syndrome, W syndrome, Waardenburg syndrome, WAGR syndrome, Warm shock syndrome, Wasting syndrome, Waterhouse-Friderichsen syndrome, WDHA syndrome, Weber-Christian syndrome, Weill-Marchesani syndrome, Werner syndrome, Westphal-Leyden syndrome, West syndrome, Whiplash shaken infant syndrome, Whistling face syndrome, White dot chorioretinal inflammatory syndrome, Williams syndrome, Williams-Campbell syndrome, Wiskott-Aldrich syndrome, Withdrawal syndrome, Withdrawal emergent syndrome, Wolf-Hirschhorn syndrome, Wolff-Parkinson-White syndrome, Wrinkly skin syndrome, WT syndrome, XTE syndrome, XX male syndrome, XXX syndrome, XXXX syndrome, XXXXX syndrome, XXXY syndrome, XYY syndrome, Yellow nail syndrome, Yentl syndrome, Zellweger syndrome, Zollinger-Ellison syndrome
See also: disease
syndromeA unique combination of sometimes apparently unrelated symptoms or signs, forming a distinct clinical entity. Often the elements of a syndrome are merely distinct effects of a common cause, but sometimes the relationship is one of observed association and the causal link is not yet understood. Originally, the term was applied only to entities of unknown cause but many syndromes have now been elucidated and their names retained because of familiarity. From the Greek syn , together, and dromos , a course or race.
syndromea group of symptoms that occurs together in a disease or abnormality.Syndromes are often named after their discoverer. Examples include DOWN'S SYNDROME, KLINEFELTER'S SYNDROME, TURNER'S SYNDROME.
A syndrome See A pattern.
acquired immunodeficiency syndrome (AIDS) A viral disease characterized by a relentless transition from asymptomatic lymphadenopathy to a wasting condition with infections (e.g. pneumonia, toxoplasmosis) and malignancies (e.g. Kaposi's sarcoma). It has a long incubation period and a poor prognosis. It is caused by the human immunodeficiency virus (HIV), which breaks down the immune response and is transmitted by exchange of body fluids (e.g. blood, semen) or transfused blood products. In the eye the disease may be accompanied by cotton-wool spots in the retina (the most frequent of the ocular complications), retinal haemorrhages, cytomegalovirus retinitis which is the major cause of visual loss, toxoplasmosis chorioretinitis, herpes zoster ophthalmicus, papilloedema, central retinal vein occlusion (the rarest of ocular complications); limitations of eye movements and pupil abnormalities, reddish-purple nodular tumours in the eyelids and conjunctiva as part of Kaposi's sarcoma. See progressive outer retinal necrosis; cytomegalovirus retinitis; viral uveitis.
adherence syndrome An uncommon complication of strabismus surgery where the posterior Tenon's capsule is violated, allowing retrobulbar fat to scar and adhere to the ocular surface. The scarring produces a restriction in ocular movements and thus a form of restrictive strabismus. It can be diagnosed by a positive forced duction test and/or a restriction in ocular motility. The condition can be prevented by careful strabismus surgical technique and care not to disturb the posterior Tenon's capsule. Syn. adhesive syndrome; cicatricial syndrome.
Adie's syndrome A dilated pupil in which all reactions to light are barely existent, together with the absence of tendon reflexes. It typically affects adult women. Syn. Holmes-Adie syndrome. See anisocoria; Adie's pupil; pupil light reflex.
Aicardi's syndrome An inherited disorder seen in females, consisting of retinal, optic nerve as well as central nervous system abnormalities. Retinal findings consist of multiple, round, chorioretinal depigmented lesions. Additional abnormalities include optic nerve head colobomas, microphthalmos, agenesis of the corpus callosum, seizures and retardation.
Alagille syndrome An autosomal dominant inherited disorder of the liver accompanied with abnormalities of the heart, spine and face. Ocular findings include posterior embryotoxon, hypertelorism, iris abnormalities, optic disc drusen and fundus hypopigmentation.
Albright's syndrome A disorder characterized by a host of findings, including cutaneous pigmentation, precocious puberty in females, and fibrous dysplasia of the orbital bone/s, which may lead to proptosis and optic atrophy.
anterior chamber cleavage syndrome See Peter's anomaly.
Andersen-Warburg syndrome See Norrie's disease.
Anton's syndrome Bilateral blindness characterized by a lack of awareness of being blind and near normal pupil reflexes. It is due to a destruction of the cortical visual area. See cortical blindness.
Apert's syndrome Congenital craniofacial malformation due to premature fusion of the cranial sutures. Some cases are inherited as autosomal dominant and caused by mutation in the gene encoding fibroblast growth factor receptor-2 (FGFR2). It is characterized by an abnormally high, peaked or conically shaped head and complete or partial webbing of the fingers and toes. There is also intellectual retardation in many cases. The ocular signs include shallow orbits with prominent globes, hypertelorism, strabismus, reduced visual acuity and, as a result of hydrocephalus, the patient may have optic atrophy. Syn. acrocephalosyndactyly. See Crouzon's syndrome.
Axenfeld's syndrome A rare, inherited disease characterized by the adhesion of strands of peripheral iris tissue to a prominent Schwalbe's line. It may be associated with glaucoma. Syn. Axenfeld's anomaly. See Peter's anomaly; Rieger's syndrome.
Balint's syndrome An entity characterized by an inability to fixate voluntarily in different parts of the visual field, to see two objects simultaneously (simultanagnosia) and to mislocate when reaching for, or pointing to, an object (ocular apraxia). Patient has normal visual acuity. This is usually due to a bilateral lesion of an area within the parieto-occipital region of the brain. Syn. Balint-Holmes syndrome. See ocular motor apraxia; simultanagnosia.
Bardet-Biedl syndrome See Laurence-Moon-Bardet-Biedl syndrome.
Bassen-Kornzweig syndrome An autosomal recessive hereditary disorder characterized by a congenital inability to absorb fats. By the end of the first decade of life the patient develops pigmentary retinopathy, which resembles retinitis pigmentosa, although the pigment clumps are scattered throughout the fundus and not confined to the periphery, and night blindness. Treatment with large doses of vitamin A may retard the progression of the condition. Syn. abetalipoproteinaemia; acanthocytosis.
Behçet's syndrome Disease consisting of ulceration of the mouth and genital region with anterior uveitis typically with hypopyon and retinal infiltrates. This disease tends to recur at regular intervals. It usually affects individuals below the age of 40 and in some 20% of cases the eye becomes blind about 3 years after the onset of ocular symptoms. See immunosuppressants.
Benedikt's syndrome A syndrome caused by a lesion (usually vascular) within the midbrain. It is characterized by an ipsilateral third nerve paralysis and ataxia and tremor of the limbs on the other side of the body. See paralysis of the third nerve; Weber's syndrome.
Bernard-Horner syndrome See Horner's syndrome.
blepharophimosis syndrome A rare, autosomal dominant inherited disorder characterized by ptosis, poor levator function, shorter than normal width of the palpebral aperture, telecanthus, and commonly epicanthus inversus, partial ectropion of the lower lid and flattening of the supraorbital ridges. Amblyopia and strabismus are present in about half of the cases. The syndrome is caused by mutations in the FOXL2 gene on chromosome 3. Treatment usually begins with surgical correction of the epicanthus and telecanthus, before ptosis surgery. See blepharophimosis; congenital ectropion.
blind spot syndrome See Swann's syndrome.
Brown's superior oblique tendon sheath syndrome This syndrome is characterized by limitation of elevation of the eye in adduction, but normal or near normal elevation when the eye is in abduction. There is limitation of movement of the affected eye in the forced duction test when attempting to elevate the eye from the adducted position. The eyes are usually straight in the primary position. The condition seems to be due to a short tendon sheath of the superior oblique muscle and an apparent anomaly of the inferior oblique muscle. It may be congenital and idiopathic or acquired due to inflammation of the tendon as a result of scleritis or rheumatoid arthritis. Syn. Brown's syndrome; sheath syndrome; superior oblique sheath syndrome. See Faden procedure.
cat's eye syndrome A condition caused by an extra fragment of a copy of chromosome 22. It is characterized by partial iris coloboma (usually a vertical portion) which makes the patient's eye look like a cat's eye. There are also optic disc coloboma, optic nerve degeneration and microphthalmos. The systemic manifestations include mental and growth retardation and low-set or malformed ears.
Chandler's syndrome A syndrome characterized by a severe corneal endothelial degeneration resulting in corneal oedema and blurred vision. There is also mild iris atrophy and secondary glaucoma. It tends to affect mainly women between 20 and 40 years of age. The therapy is aimed at treating the glaucoma. Syn. iridocorneal syndrome. See ICE syndrome.
Charles Bonnet syndrome A rare condition characterized by visual hallucinations in an individual who is aware of the unreal nature of the hallucinations. Almost all subjects have reduced visual acuity bilaterally. The condition is often associated with age-related macular degeneration, diabetic retinopathy, other retinal diseases or cataracts.
Cogan's syndrome See interstitial keratitis.
Cogan-Reese syndrome See ICE syndrome.
computer vision syndrome (CVS) A condition resulting from extensive viewing of computer screens or video display terminals (VDT) or visual display units (VDU). The patient may complain of eyestrain, dry red eyes, headaches, transient blurred vision or diplopia, as well as neckache or backache. The ocular symptoms are caused by continuous accommodative demands produced by the pixels or tiny dots of the computer screen that are difficult to keep in focus, unlike print on a page. Other causes are frequent saccadic eye movements, convergence demands and position of the screen. Management includes exact correction for the distance at which the VDT appears, viewing it about 10º-20º below the straight-ahead position and special dispensing.
corneal exhaustion syndrome An intolerance to continue wearing contact lenses after many years of wear, probably due to endothelial dysfunction as a result of chronic hypoxia and acidosis. It occurs primarily with PMMA lenses, but also with other lenses with low oxygen transmissibility. Some of the signs associated with this syndrome are: endothelial polymegethism, corneal oedema, loss of corneal sensitivity, variations in corneal curvature and refractive error, blurred vision, lacrimation, hyperaemia and discomfort. Management usually consists in discontinuing contact lens wear. Refitting with lenses with high oxygen transmissibility is often successful. Syn. corneal fatigue syndrome; corneal exhaustion phenomenon. See hypoxia; overwear syndrome.
corneal fatigue syndrome See corneal exhaustion syndrome.
Cornelia de Lange syndrome A congenital anomaly characterized by growth and mental retardation, limb malformation, syndactyly, bushy eyebrows meeting in the midline, hairline down on the forehead, depressed bridge of the nose and low-set ears. Ocular manifestations may include ptosis, nystagmus, microcornea and most commonly high myopia. The pathogenesis of the condition is unknown.
Crouzon's syndrome An autosomal dominant inherited craniofacial malformation due to premature fusion of the cranial sutures. It is characterized by an abnormally wide cranium, high forehead, short anteroposterior head distance. The ocular signs include exophthalmos, hypertelorism, ectopia lentis, iris coloboma and strabismus. The incidence of this syndrome is much higher than that of Apert's syndrome, another craniofacial anomaly.
dorsal midbrain syndrome See Parinaud's syndrome.
Down's syndrome A chromosomal abnormality, trisomy 21, which causes intellectual and physical handicaps with small stature, obesity and developmental heart defects, etc. Ocular signs include epicanthus, blepharoconjunctivitis, cataract, keratoconus, nystagmus and iris spots (Brushfield's). Cases of high myopia are noted but most subjects tend to have hyperopia and there is a high prevalence of strabismus. Visual acuity is also reduced, even after correction of the ametropia. Syn. trisomy 21 syndrome.
Duane's syndrome A complex disorder found in about 1% of patients with strabismus, it occurs in three different types. All three types are characterized by retraction of the globe into the orbit and by narrowing of the palpebral fissure on attempted adduction. The left eye is affected more often than the right eye and the condition is bilateral in about 20% of patients. In addition, each type presents an abnormal pattern of ocular motility. Type 1, the most common affecting over three-quarters of all cases, presents limited or absent abduction and slight esotropia in the primary position, and typically a head turn towards the involved side. Type 2 presents limited adduction, slight exotropia and relatively normal or slightly limited abduction, and usually a head turn away from the involved side. Type 3, the rarest (about 1% of all cases), presents limited abduction and adduction. The aetiology is believed to be a congenital absence of the sixth cranial nerve and its nucleus (partial absence in type 2) and fibres from the third cranial nerve innervate the lateral rectus so that innervation results in contraction of both the lateral and medial recti muscles (co-contraction) and the degree of this paradoxical innervation determines the severity of the disorder. Management is frequently surgical especially in types 2 and 3, but prismatic corrections have been found to be beneficial in selected cases. Syn. Duane retraction syndrome (DRS); Duane's phenomenon; retraction syndrome; Stilling-Turk-Duane syndrome; Turk's disease. See Faden procedure.
Edwards' syndrome A congenital condition in which an extra chromosome 18 is present. The major systemic findings are congenital heart defects and intellectual and physical retardation and the major ocular manifestations are epicanthal folds, corneal opacities, congenital cataract, ptosis and microphthalmos. The life expectancy of patients with this syndrome is less than one year. Syn. syndrome, trisomy 18.
Ehlers-Danlos syndrome Syndrome characterized by hyperelasticity of the skin, hyperextensibility of the joints and fragile blood vessels. It is inherited as an autosomal dominant disorder of connective tissue with an increase in dermal elastic tissue and a decrease in collagen. The ocular signs include blue sclera, eye elongation and myopia, angioid streaks, ectopia lentis, keratoconus and retinal detachment.
exfoliation syndrome See pseudoex-foliation syndrome.
fallen eye syndrome A condition occurring after a prolonged paresis of the superior oblique muscle of one eye, in which the other eye may not elevate completely, if the paretic eye was always the fixating eye.
Fisher's syndrome A rare developmental anomaly due to a fusion of the fascial sheaths of some of the extraocular muscles giving rise to a variety of paralyses depending on the muscles or tendons which have adhered to each other. It can be acquired or congenital. Therapy is mainly surgical.
floppy eyelid syndrome (FES) A condition often occurring in very obese middle aged males, characterized by a very loose upper eyelid allowing it to be very easily everted and sometimes injured during sleep resulting in papillary conjunctivitis. If severe, treatment is by lid shortening.
Foster Kennedy syndrome A syndrome in which there is optic atrophy in one eye and papilloedema in the other. This is due to direct pressure by a tumour on one optic nerve giving rise to optic atrophy, and as a result of raised intracranial pressure papilloedema develops in the other eye. It is often caused by a tumour at the base of the frontal lobe or an olfactory meningioma. In some cases the patient also reports a loss of smell. Syn. Kennedy's syndrome.
Foville's syndrome A disorder of the inferior cerebellar artery that causes a pontine lesion involving the abducens and the facial (seventh) nucleus or its fasciculus as it leaves the brainstem at the pontine paramedian reticular formation. It is characterized by a paralysis of the conjugate eye movements towards the affected side (horizontal gaze palsy), ipsilateral facial paralysis, hemianaesthesia of the face, contralateral paralysis of the limbs, Horner's syndrome and deafness.
fragile X syndrome (FXS) An inherited syndrome caused by a constriction and nearly broken long arm of an X chromosome at q27.3. Although males are mainly affected, females are also affected to a lesser extent and carry the genetic defect. Systemic manifestations are intellectual retardation (the second most common cause after Down's syndrome), enlarged testes, high forehead and large jaws and long ears. The ocular manifestations are strabismus (typically esotropia), large refractive errors (most commonly hyperopic) and poor eye contact.
Fuchs' syndrome Changes in the colour of the iris of one eye associated with a mild inflammation of the iris as well as the ciliary body, often complicated with cataract and sometimes glaucoma. See heterochromia.
Gardner's syndrome See congenital hypertrophy of the retinal pigment epithelium.
Gerstmann syndrome A disorder believed to result from a lesion at the occipitoparietal border, the angular gyrus and the interparietal sulcus. It is characterized by finger agnosia, agraphia, acalculia and right-left disorientation. Ocular findings are homonymous hemianopia and visual agnosia for colours.
Goldenhar's syndrome A syndrome characterized by preauricular appendages and vertebral and facial bones anomalies with epibulbar dermoids, upper eyelid coloboma as well as a microphthalmos and optic disc coloboma. Syn. oculoauriculovertebral dysplasia.
Gradenigo's syndrome An inflammation of the middle ear (otitis media) and mastoid bone (mastoiditis) extending to the apex of the petrous temporal bone. It results in ipsilateral deafness, pain in or near the eye on the side of the face (fifth nerve involvement), paralysis of the external rectus muscle (sixth nerve involvement), facial paralysis, reduced corneal sensitivity (fifth nerve involvement) and some increase in body temperature. The condition responds well to antibiotics.
Gregg syndrome See rubella syndrome.
Hermansky-Pudlak s . See albinism.
van der Hoeve's syndrome See blue sclera.
Holmes-Adie syndrome See Adie's syndrome.
Horner's syndrome Interruption of the sympathetic nerve supply to the dilatator pupillae muscle resulting in miosis, slight ptosis (1 or 2 mm), slight elevation of the lower lid, enophthalmos, anisocoria (greater in dim illumination), heterochromia (mainly in the congenital type), and reduced or absence of ipsilateral sweating if the lesion is preganglionic to the superior cervical ganglion. Possible causes are central (e.g. tumour, vascular, demyelination), preganglionic (tumour, common carotid and aortic aneurysms and dissection) or postganglionic (e.g. otitis media, internal carotid dissection, tumour). Syn. Bernard-Horner syndrome. See efferent pupillary defect; Table P11.
Hurler's syndrome An autosomal recessive inherited disorder caused by mutation in the gene encoding the enzyme alpha-L-iduronidase (IDUA). It is characterized by dwarfism, skeletal and facial dysmorphism, intellectual retardation, gargoyle like facies and corneal clouding. There may also be pigmentary retinopathy and optic atrophy. Patients excrete excessive amounts of heparan sulfate and dermatan sulfate in the urine. A subtype of this condition is called Hurler-Scheie syndrome (Scheie syndrome) in which the enzyme deficiency is less severe and the systemic features are less pronounced. Syn. mucopolysaccharidosis type 1.
ICE syndrome A syndrome involving the proliferation of corneal endothelium, iris nodules, atrophy of the iris and synechia resulting in secondary glaucoma. ICE is an abbreviation of iridocorneal endothelial. Syn. Cogan-Reese syndrome; iridocorneal endothelial syndrome; iris naevus syndrome. See iris naevus; Chandler's syndrome.
immobile lens syndrome See contact lens acute red eye.
infantile esotropia syndrome See infantile strabismus.
iridocorneal endothelial syndrome See ICE syndrome.
iris naevus syndrome See ICE syndrome.
Irlen's syndrome See Meares-Irlen syndrome.
Irvine-Gass syndrome See cystoid macular oedema.
ischaemic ocular syndrome A syndrome occurring in individuals over the age of 50 with a history of cardiovascular disorders. It is characterized by, usually, unilateral loss of vision which may be acute or may develop over days or months, rubeosis iridis and there may be fadeouts of vision and pain. The fundus may have dilated congested veins with some haemorrhages and macular oedema. Management is directed at the cardiovascular disorder.
Kearns-Sayre syndrome See chronic progressive external ophthalmoplegia.
Kennedy's syndrome See Foster Kennedy syndrome.
Laurence-Moon-Bardet-Biedl syndrome An apparently hereditary disorder characterized by mental handicap, dystrophia adiposogenitalis, polydactylism and obesity. The associated ocular abnormalities are retinitis pigmentosa, optic nerve atrophy with reduced visual acuity, night blindness and myopia. Syn. Bardet-Biedl syndrome; Moon-Bardet-Biedl syndrome.
Marcus Gunn jaw-winking syndrome See jaw-winking phenomenon.
Marfan's syndrome A widespread inherited disorder of connective tissue that affects many organs, including the skeleton, lungs, heart and blood vessels. The ocular signs are subluxation or dislocation of the lens which results from a defective suspensory ligament, myopia due to increased axial length, retinal detachment as well as heterochromia, keratoconus, blue sclera, strabismus and glaucoma due to developmental anomalies of the angle of the anterior chamber. The syndrome appears to be due to mutation in fibrillin-1 gene (FBN1), which is located on chromosome 15. See luxation of the lens; lattice degeneration of the retina.
Meares-Irlen syndrome A visual disorder characterized by difficulties with reading (visual stress), which are mitigated by wearing coloured filters of a specific tint (called Irlens lens). The patient often complains of headaches and eyestrain and observes illusions of motion, colour and shape distortion of a stationary striped pattern (e.g. grating or text). The patient may also have low amplitude of accommodation and reduced stereoscopic visual acuity. Coloured filters individually selected have been found to help in the management of this condition. Syn. Irlen's syndrome; scotopic sensitivity syndrome. See dyslexia.
Mikulicz's A bilateral, painless, symmetrical enlargement of the lacrimal and salivary glands, causing hyposecretion of tears and saliva. It is usually associated with reticulosis, sarcoidosis, tuberculosis or syphilis. See dacryoadenitis; keratoconjunctivitis sicca; Sjögren's syndrome.
Möbius' syndrome (or Moebius') A congenital condition due to a deletion on the long arm of chromosome 13. It is characterized by varying abnormalities of the fifth to the twelfth cranial nerves. The patient may exhibit an expressionless facial appearance, webbed fingers or toes, limb defects, deafness, feeding difficulties and mild mental handicap. The ocular signs include unilateral or bilateral esotropia with inability to abduct the eyes, horizontal gaze palsy and sagging of the lower lids.
monofixation syndrome A condition in which there is an inability in binocular fixation, to fuse images formed on the fovea of each eye while peripheral fusion remains normal. There is limited stereopsis in most cases. One eye is usually amblyopic with a small central scotoma, which accounts for the absence of diplopia. There are cases in which there is no strabismus, although anisometropia is present. When there is strabismus (most commonly esotropia) the angle of deviation is small (less than 8 Δ) and the condition is frequently regarded as a type of microtropia. Management usually consists in correcting the refractive error and often occlusion treatment. See sensory fusion; microtropia; occlusion treatment.
Moon-Bardet-Biedl syndrome See Laurence-Moon-Bardet-Biedl syndrome.
nystagmus blockage syndrome A condition in which convergence or adduction of one eye reduces nystagmus.
'one and one half' syndrome An eye movement disorder resulting from a brainstem lesion of the medial longitudinal fasciculus and the paramedian pontine reticular formation on the same side of the body. It is characterized by a horizontal palsy when the eye looks towards the same side as the lesion and an internuclear ophthalmoplegia (i.e. limited adduction of the eye on the same side and jerk nystagmus of the other eye, when the eyes look to the side of the body opposite to that of the lesion). It is thus named because there is a complete ipsilateral gaze palsy and a contralateral half gaze palsy. Syn. paralytic pontine exotropia. See internuclear ophthalmoplegia.
orbital apex syndrome See orbital fissure syndrome.
orbital fissure syndrome A disorder caused by trauma or tumour involving the superior orbital fissure through which pass the third, fourth and sixth cranial nerves, which supply the extraocular muscles, and also the ophthalmic division of the trigeminal nerve. It is characterized by diplopia, corneal and facial anaesthesia (about half the forehead), proptosis and pain behind the eyeball. If the trauma, tumour or an orbital inflammation expands to the orbital apex (orbital apex syndrome) it involves the optic nerve and the results are more severe than the orbital fissure syndrome with optic nerve compression, loss of vision, diplopia, proptosis, limitation of eye movements, and corneal and facial anaesthesia. Syn. orbital apex-sphenoidal syndrome.
orbital inflammatory syndrome An idiopathic inflammation of orbital tissues causing sudden pain, restricted ocular motility (including diplopia), proptosis, lid oedema and decreased vision. It may occur in children or adults. The abnormality is thought to be due to an inflammation of the orbital structures including the extraocular muscles (myositis) and tendons, vascular system, sclera, and optic nerve sheath. Lesions may be noted bilaterally, in which case, in the adult population, the possibility of systemic vasculitis or lymphoproliferative disease is raised. Syn. orbital pseudotumour.
overwear syndrome Ocular pain, which may be very intense, accompanied by corneal epithelium damage, conjunctival injection, lacrimation, blepharospasm, photophobia, and hazy vision following corneal hypoxia caused by overwear of contact lenses, principally the PMMA type. The symptoms usually begin to appear 2-3 hours after the lenses are removed and recovery usually occurs within 24 hours, although an antibiotic may be needed. See corneal abrasion; hypoxia; oedema; corneal exhaustion syndrome.
Parinaud's syndrome Paralysis of the conjugate movements of the eyes either for elevation or depression, or both, and sometimes with paralysis of convergence, fixed pupils and lid retraction. This condition is due to a lesion at the level of the superior colliculi or in the subthalamic region. Syn. dorsal midbrain syndrome; tectal midbrain syndrome. See convergence-retraction nystagmus; Collier's sign.
pigment dispersion syndrome (PDS) A degenerative process in the iris and ciliary body epithelium in which pigment granules are disseminated and deposited on the back surface of the cornea, the lens, the zonules and within the trabecular meshwork. On the corneal endothelium it may form a vertical spindle shape (called Krukenberg's spindle). Deposition of pigment in the trabecular meshwork may give rise to glaucoma (called pigmentary glaucoma). See pigmentary glaucoma; Krukenberg's spindle; Sampaolesi's line.
Posner-Schlossman syndrome A condition characterized by recurrent episodes of high intraocular pressure (40-80mmHg) associated with intraocular inflammation. Keratic precipitates commonly appear with each attack, especially on the trabecular meshwork. Patients are typically young adults. Main complaint is blurred vision, due to corneal oedema. The cause is unknown, although herpes simplex virus has been implicated. With repeated attacks chronic uveitis and open-angle glaucoma may develop. Treatment usually consists of topical steroids to control the inflammation and carbonic anhydrase inhibitors or beta-blockers to reduce the secretion of aqueous humour and decrease the intraocular pressure. Syn. glaucomatocyclitic crisis.
pseudoexfoliation syndrome A systemic disorder in which a greyish-white fibrillogranular basement membrane material is deposited on the anterior lens capsule, zonules, ciliary body, iris, trabeculum and conjunctiva, as well as other organs such as the skin, heart, lungs, kidneys and meninges. With gonioscopy, Sampaolesi's line of pigment can be seen on the surface of the trabecular meshwork anterior to Schwalbe's line. Secondary glaucoma may occur as a result. Syn. exfoliation syndrome. See capsular glaucoma; pseudoexfoliation.
presumed ocular histoplasmosis syndrome (POHS) See histoplasmosis.
Refsum's syndrome An autosomal recessive hereditary disorder caused by a defective metabolism of phytanic acid alpha-hydrolase resulting in an accumulation of phytanic acid in the blood and tissues. The principal signs are pigmentary degeneration of the retina, cerebellar ataxia, peripheral neuropathy and deafness. The visual fields are constricted and there is night blindness. Management with a phytanic acid free diet may retard the progression of the condition. Syn. Refsum's disease.
Reiter's syndrome See Reiter's disease.
retraction syndrome See Duane's syndrome.
Rieger's syndrome A rare, hereditary (usually autosomal dominant) developmental anomaly of the cornea, iris and the angle of the anterior chamber. It is characterized by posterior embryotoxon, stromal hypoplasia of the iris, pupillary anomalies, adhesion of strands of iris tissue to the cornea at the angle of the anterior chamber and glaucoma in about half of the cases, as well as dental and skeletal abnormalities. It is a more severe disorder than Axenfeld's syndrome to which it is related and is thus sometimes referred to as the Axenfeld-Rieger syndrome. Syn. mesodermal dysgenesis of the cornea and iris.
Riley-Day syndrome A hereditary nervous disorder largely confined to Ashkenazic Jews. It is characterized by alacrima, corneal hypoaesthesia, exotropia, myopia and excessive sweating, vomiting, attacks of high fever, incoordination and lack of pain sensitivity. Few patients survive to adulthood as most die from pneumonia and cardiovascular collapse. Syn. familial autonomic dysfunction.
rubella syndrome Congenital defects in infants whose mothers contracted rubella in the first few months of pregnancy. The infant may have cardiac malformation, cataract, pigment epithelium disorders, deafness, microcephaly and mental handicap. Syn. Gregg syndrome. See deaf-blind.
Scheie syndrome See Hurler's syndrome.
scotopic sensitivity syndrome See Meares-Irlen syndrome.
shaken baby syndrome Malicious injury to an infant which causes cerebral (especially intracranial haemorrhage) and ocular damage particularly retinal haemorrhage, but in whom external signs of ocular or head injury are typically absent. It is due to ruptures of retinal vasculature as a result of violent shaking of the baby.
Sjögren's syndrome An autoimmune chronic connective tissue disease characterized by a failure of lacrimal secretion and diminished salivary flow due to destruction of lacrimal and salivary glands. It leads to keratoconjunctivitis sicca, with dryness of the mouth, of the upper respiratory tract and other mucous membranes and often associated with rheumatoid arthritis. The condition occurs predominantly in women after menopause. Management involves artificial tears, corticosteroids, punctal occlusion and in very severe cases tarsorrhaphy may be required. See alacrima; keratoconjunctivitis sicca; Mikulicz's syndrome; artificial tears.
Stevens-Johnson syndrome An acute form of erythema exudativum multiforme involving the mucous membranes and large areas of the body. Some form of conjunctivitis occurs in most cases but symblepharon (an adhesion between the palpebral and bulbar conjunctiva) and keratoconjunctivitis sicca with corneal opacification and loss of vision may also occur. Common causes include reaction to some drugs (e.g. sulfonamides, penicillin, NSAIDs), secondary to an infection (e.g. herpes simplex virus, Mycoplasma pneumoniae). Management with high permeability sealed scleral contact lenses which can retain physiological saline bathing the cornea have been found to alleviate symptoms. See pseudomembranous conjunctivitis; entropion; erythema multiforme; ocular ferning test.
Stickler's syndrome An autosomal dominant hereditary, progressive connective tissue disorder. One form of the syndrome is caused by mutation in the collagen, type 2, alpha-1 gene (COL2A1), another by mutation in COL11A1 gene and another by mutation in COL11A2 gene. It is characterized by a flattened face, maxillary hypoplasia, progressive arthritis, cleft palate and deafness. The ocular manifestations include progressive vitreoretinal degeneration, which results in an empty vitreous cavity, vitreous bands, retinal vascular sheathing, chorioretinal atrophy, high myopia, cataract and retinal detachment. See Wagner's syndrome.
Stilling-Turk-Duane syndrome See Duane's syndrome.
Sturge-Weber syndrome A rare, congenital disease characterized by reddish pigmentation or 'port-wine' stains (naevus flammeus), usually on one side of the face in the area supplied by the trigeminal nerve. It is associated with a haemangioma of the choroid and high intraocular pressure, which give rise to megalocornea or glaucoma. Syn. Sturge-Weber disease, encephalotrigeminal angiomatosis. See telangiectasia.
superior oblique sheath syndrome See Brown's superior oblique tendon sheath syndrome.
Swann's syndrome An esotropia in which the angle of deviation is such that the retinal image of the fixation object in the deviated eye falls on the optic disc. Syn. blind spot esotropia; syndrome, blind spot.
Terson's syndrome Subarachnoid haemorrhage followed by retinal haemorrhage (in about 30% of patients) which breaks through the inner limiting membrane of the retina into the vitreous. It is due to an acute rise in intracranial pressure. The condition often subsides spontaneously, otherwise treatment usually consists of vitrectomy. See preretinal haemorrhage.
tight lens syndrome See contact lens acute red eye.
tilted disc syndrome See congenital scleral crescent.
Treacher Collins syndrome An autosomal dominant inherited disorder characterized by deformities of the skull and face with hypoplasia of the zygomatic and mandible bones, ear defects, antimongoloid slants of the palpebral fissures, colobomas of the lower lids and absence of eyelashes medially. It is caused by mutation in the 'treacle' gene (TCOF1). Syn. mandibulofacial dysostosis.
trisomy 18 syndrome See Edwards' syndrome.
trisomy 21 syndrome See Down's syndrome.
Turcot syndrome See congenital hypertrophy of the retinal pigment epithelium.
Turner's syndrome A disorder caused by the absence of, or sometimes defective, X chromosomes in females. It is characterized by shortness of stature, webbing of the skin and neck, congenital heart disease and genitourinary anomalies. The ocular manifestations include epicanthus, ptosis, strabismus, blue sclera, myopia, cataract, and colour vision deficiencies. Note: as these female patients are born with only a single X chromosome this is designated as monosomy 45XO. See chromosome; inheritance.
Usher's syndrome An autosomal recessive inherited condition characterized by retinitis pigmentosa associated with deafness. One form of the syndrome is caused by mutation in the MYO7A gene (myosin, unconventional, family 7, member A), another form is caused by mutations in a PDZ domain-containing gene on chromosome 11p15.1. See deaf-blind.
uveal effusion syndrome A condition characterized by choroidal detachments associated with exudative retinal detachment and frequent localized areas of retinal pigment epithelium hypertrophy. The cause may be idiopathic, trauma, intraocular surgery or chronic uveitis. Treatment is aimed at the primary cause. See choroidal detachment.
V syndrome See V pattern.
Vogt-Koyanagi-Harada syndrome (VKH) A severe, multisystem disorder of unknown origin. It is characterized by various systemic features: alopecia, poliosis, vitiligo and/or hearing difficulties. The ocular manifestations, bilateral in nature, are: iridocyclitis, which often leads to the formation of posterior synechia and secondary glaucoma, choroiditis and retinal detachment. Management includes antiinflammatory drugs. Syn. Vogt-Koyanagi-Harada disease. See Harada's disease.
Wagner's syndrome An autosomal dominant inherited disease caused by mutation in the gene encoding chondroitin sulfate proteoglycan (CSPG2), which is a proteoglycan present in the vitreous humour. The condition is characterized by an empty vitreous cavity or dense membranes within the vitreous, myopia, retinal perivascular pigmentation, retinal degeneration, cataract and, less frequently, retinal detachment. Vision is usually normal until adulthood. The condition is not associated with systemic diseases. Syn. vitreoretinal degeneration. See Stickler's syndrome.
Weber's syndrome A syndrome caused by a lesion (usually vascular) in the cerebral peduncle of the brain. It is characterized by an ipsilateral third nerve paralysis associated with facial paralysis and contralateral hemiplegia. See paralysis of the third nerve; Benedikt's syndrome.
Weill-Marchesani syndrome A connective tissue disorder inherited as autosomal dominant caused by mutations in the fibrillin 1 gene (FBN1) or recessive dominant, which can be caused by mutations in the ADAMTS10 gene. The syndrome is characterized by spherophakia, lenticular myopia and glaucoma, which result from lens subluxation and pupil block, associated with brachydactyly and short stature. See Marfan's syndrome.
Wernicke's syndrome See Wernicke's disease.
Patient discussion about syndrome
Q. I have a little brother who has Fetal Alcolhol syndrome He is 9 yrs. old & was born wi the condition.
Q. What is asperger`s syndrome? what is asperger`s syndrome and how is it linked to Autistic spectrum disorder (ASD) or pervasive developmental disorder (PDD)?
Q. How the fetus is influenced from Bloom syndrome? If the mother has the syndrome, what is the influence on the fetus?