{"orpha":1647,"name":"Oculocerebrocutaneous syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Delleman syndrome","Delleman-Oorthuys syndrome","Leichtman-Wood-Rohn syndrome","OCCS","Orbital cyst with cerebral and focal dermal malformations"],"definition":"A rare neurologic disease typically characterized by the triad of eye, central nervous system and skin malformations, and often associated with an intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1647/","orphanet_url":"https://www.orpha.net/en/disease/detail/1647","names":{"fr":{"name":"Syndrome oculo-cérébro-cutané","synonyms":["OCCS","Syndrome de Delleman","Syndrome de Delleman-Oorthuys","Syndrome de Leichtman-Wood-Rohn","Syndrome de kyste orbitaire-malformations cérébrales-hypoplasie dermique en aires"],"definition":"Maladie neurologique rare caractérisée par une triade associant une malformation des yeux, du système nerveux central et de la peau, s'accompagnant souvent d'une déficience intellectuelle."},"de":{"name":"Okulo-zerebro-kutanes Syndrom","synonyms":["Delleman-Oorthuys-Syndrom","Delleman-Syndrom","Leichtman-Wood-Rohn-Syndrom","OCCS","Orbitazyste mit zerebralen und fokal-dermalen Fehlbildungen"],"definition":"Eine seltene neurologische Erkrankung, die typischerweise durch die Trias von Fehlbildungen der Augen, des Zentralnervensystems und der Haut gekennzeichnet ist und oft mit einer Intelligenzminderung einhergeht."},"es":{"name":"Síndrome óculo-cerebro-cutáneo","synonyms":["OCCS","Quiste orbitario con malformaciones dérmicas focales y cerebrales","Síndrome de Delleman","Síndrome de Delleman-Oorthuys","Síndrome de Leichtman-Wood-Rohn"],"definition":"Es una enfermedad neurológica poco frecuente caracterizada típicamente por la tríada de malformaciones oculares, del sistema nervioso central y de la piel, y a menudo asociada a una discapacidad intelectual."},"it":{"name":"Sindrome oculo-cerebro-cutanea","synonyms":["Cisti orbitaria con malformazioni cerebrali e cutanee focali","OCCS","Sindrome di Delleman","Sindrome di Delleman-Oorthuys","Sindrome di Leichtman-Wood-Rohn"],"definition":"La sindrome oculo-cerebro-cutanea (OCCS) è una malattia neurologica rara, caratterizzata dalla triade malformazioni degli occhi, del sistema nervoso centrale e della cute, spesso associate a disabilità intellettiva."},"nl":{"name":"Oculo-cerebro-cutaan syndroom","synonyms":["Delleman-Oorthuyssyndroom","Dellemansyndroom","Leichtman-Wood-Rohnsyndroom","OCCS","Orbitale cyste met cerebrale en focale dermale misvormingen"],"definition":"Een zeldzame neurologische ziekte doorgaans gekarakteriseerd door de triade van malformaties van het oog, het centrale zenuwstelsel en de huid, en vaak geassocieerd met een intellectuele beperking."},"pt":{"name":"Síndrome oculo-cerebro-cutâneo","synonyms":["Quisto orbital-malformações cerebrais e dérmicas focais","Síndrome Delleman-Oorthuys","Síndrome Leichtman-Wood-Rohn"]},"pl":{"name":"Zespół oczno-mózgowo-skórny","synonyms":["OCCS","Torbiel oczodołu z malformacjami mózgu oraz ogniskowymi malformacjami skórnymi","Zespół Dellemana","Zespół Dellemana i Oorthuysa","Zespół Leichtmana, Wooda i Rohna"]},"cs":{"name":"Okulocerebrokutánní syndrom","synonyms":["OCCS","Orbitální cysta s cerebrálními a fokálními dermálními malformacemi","Dellemanův syndrom","Dellemanův-Oorthuysův syndrom","Leichtmanův-Woodův-Rohnův syndrom","Delleman-Oorthuysův syndrom","Leichtman-Wood-Rohnův syndrom"]},"uk":{"name":"Окулоцереброкутанний синдром","synonyms":["Синдром Деллемана","Синдром Деллемана-Ортвейса","Синдром Лейхтмана-Вуда-Рона","OCCS","Кіста орбіти з церебральними та вогнищевими шкірними вадами розвитку"],"definition":"A rare neurologic disease typically characterized by the triad of eye, central nervous system and skin malformations, and often associated with an intellectual disability."},"zh":{"name":"眼-大脑-皮肤综合征","synonyms":["眼眶囊肿伴脑部及局灶性皮肤畸形"]},"tr":{"name":"Oküloserebrokutanöz sendrom","synonyms":["OCCS","Delleman sendromu","Delleman-Oorthuys sendromu","Leichtman-Wood-Rohn sendromu","Serebral ve fokal dermal malformasyonlu orbital kist"]}},"xrefs":[{"source":"OMIM","code":"164180","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"417997287"},{"source":"MONDO","code":"0008108","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538088","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796092","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"106","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10088432","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166478,"name":"Cerebral malformation with epilepsy","classifications":[156,181]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":38.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002334","label":"Abnormality of the cerebellar vermis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010609","label":"Skin tags","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000625","label":"Eyelid coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001362","label":"Skull defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010185","label":"Aplasia/Hypoplasia of the distal phalanges of the toes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100777","label":"Exostoses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002006","label":"Facial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000921","label":"Missing ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null}]}}