{"orpha":1806,"name":"Ectodermal dysplasia-blindness syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1806/","orphanet_url":"https://www.orpha.net/en/disease/detail/1806","names":{"fr":{"name":"Syndrome de dysplasie ectodermique-cécité","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par une déficience intellectuelle, une déficience visuelle sévère due à des malformations oculaires (microphtalmie et microcornée avec sclérocornée), une petite taille, une hypotrichose, des anomalies dentaires et une dysmorphie faciale (pont nasal étroit, partie distale des ailes évasée et oreilles d'implantation basse et décollées). Aucun cas n'a été décrit dans la littérature depuis 1992."},"de":{"name":"Ektodermale Dysplasie-Blindheit-Syndrom","definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch Intelligenzminderung, schwere Sehstörungen aufgrund von Augenfehlbildungen (Mikrophthalmie, Mikrokornea und Sklerokornea), Kleinwuchs, Hypotrichose, Zahnanomalien und Gesichtsdysmorphien (z. B. schmaler Nasenrücken mit ausgeprägter distaler Aufweitung und tief angesetzte, abstehende Ohren) gekennzeichnet ist. Seit 1992 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de displasia ectodérmica-ceguera","definition":"Es un síndrome dismórfico/con anomalías congénitas múltiples poco frecuente caracterizado por discapacidad intelectual, discapacidad visual grave debido a malformaciones oculares (microftalmos y microcórnea con esclerocórnea), talla baja, hipotricosis, anomalías dentales y rasgos faciales dismórficos (como puente nasal estrecho con un marcado ensanchamiento distal y orejas prominentes y de implantación baja). No ha habido más descripciones en la literatura desde 1992."},"it":{"name":"Sindrome displasia ectodermica-cecità","definition":"Si tratta di una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da disabilità intellettiva, grave deficit visivo secondario alle malformazioni oculari (microftalmo e microcornea con sclerocornea), bassa statura, ipotricosi, anomalie dei denti e dismorfismi facciali (sella nasale stretta con svasatura distale marcata, e orecchie sporgenti a basso impianto. Non sono stati descritti nuovi casi dopo il 1992."},"nl":{"name":"Ectodermale dysplasie - blindheid-syndroom","definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door intellectuele achterstand, ernstig verlies van gezichtsvermogen door oogmalformaties (microftalmie en microcornea met sclerocornea), kleine gestalte, hypotrichose, dentale anomalieën, en dysmorfe gelaatskenmerken (zoals smalle neusbrug opvallende distale verbreding, en laagstaande flaporen). Sinds 1992 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de displasia ectodérmica-cegueira"},"pl":{"name":"Dysplazja ektodermalna - ślepota"},"cs":{"name":"Syndrom zahrnující ektodermální dysplázii a slepotu"},"uk":{"name":"Синдром ектодермальної дисплазії - сліпоти","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992."},"zh":{"name":"外胚层发育不良-失明综合征"},"tr":{"name":"Ektodermal displazi-körlük sendromu"}},"xrefs":[{"source":"OMIM","code":"268320","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"708794156"},{"source":"MONDO","code":"0010001","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302546","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2045","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"1583659[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1583659[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001131","label":"Corneal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000446","label":"Narrow nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000647","label":"Sclerocornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null}]}}