{"orpha":1433,"name":"Choroidal atrophy-alopecia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Moloney syndrome","Regional choroidal atrophy and alopecia"],"definition":"A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1433/","orphanet_url":"https://www.orpha.net/en/disease/detail/1433","names":{"fr":{"name":"Syndrome d'atrophie choroïdienne-alopécie","synonyms":["Syndrome de Moloney"],"definition":"Dysplasie ectodermique très rare caractérisée par une atrophie de la choroïde (parfois régionale) associée à d'autres anomalies ectodermiques, telles que des cheveux fins et épars, des sourcils et des cils hypoplasiques ou absents, et éventuellement une légère diminution de la vision et des ongles dysplasiques/épaissis/striés."},"de":{"name":"Aderhautatrophie-Alopezie-Syndrom","synonyms":["Moloney-Syndrom","Regionale Choroidea-Atrophie und Alopezie"],"definition":"Ein sehr seltenes Ektodermale-Dysplasie-Syndrom, das gekennzeichnet ist durch die Assoziation von Choroidea-Atrophie (manchmal regional) mit Zeichen einer ektodermale Dysplasie (feine und spärliche Haare, fehlende oder spärliche Wimpern und Augenbrauen und dysplastische/dicke/gefurchte Nägel) und leichten Sehstörungen."},"es":{"name":"Síndrome de atrofia coroidea-alopecia","synonyms":["Atrofia coroidea y alopecia regionales","Síndrome de Moloney"],"definition":"Es un síndrome de displasia ectodérmica poco frecuente caracterizado por la asociación de atrofia coroidea (a veces regional), junto con otros rasgos de displasia ectodérmica que incluyen cabello fino y escaso, ausencia o disminución de pestañas y cejas, y posible pérdida visual leve y uñas displásicas/engrosadas/estriadas."},"it":{"name":"Atrofia della coroide - alopecia","synonyms":["Atrofia regionale della coroide e alopecia","Sindrome di Moloney"],"definition":"L'atrofia della coroide-alopecia è una sindrome rara da displasia ectodermica, caratterizzata dall'associazione tra l'atrofia della coroide (a volte a livello periferico) e i segni della displasia ectodermica, compresi i capelli fini e radi, l'assenza o la riduzione delle ciglia e delle sopracciglia, l'ipovisione, la displasia/ispessimento/scanalatura delle unghie."},"nl":{"name":"Choroïdale atrofie - alopecie-syndroom","synonyms":["Regionale choroïdale atrofie en alopecie","Syndroom van Moloney"],"definition":"Een zeldzaam syndroom van ectodermale dysplasie, gekenmerkt door de associatie van atrofie van vaatvlies (soms regionaal) met andere kenmerken van ectodermale dysplasie waaronder fijn en schaars haar, geen of minder wimpers en wenkbrauwen, en mogelijk mild verlies van gezichtsvermogen en dysplastische/dikke/gegroefde nagels."},"pt":{"name":"Síndrome de atrofia coroideia-alopecia","synonyms":["Síndrome Moloney"]},"pl":{"name":"Atrofia błony naczyniowej - łysienie","synonyms":["Miejscowa atrofia błony naczyniowej i łysienie","Zespół Moloney'a"],"definition":"Rzadki zespół dysplazji ektodermalnej, charakteryzujący się współwystępowaniem zaniku naczyniówki (czasem regionalnego) wraz z innymi cechami dysplazji ektodermalnej, takimi jak cienkie i rzadkie włosy, brak lub ścieńczenie rzęs i brwi oraz prawdopodobnie łagodne niedowidzenie i dysplastyczne/pogrubiałe/rowkowane paznokcie."},"cs":{"name":"Syndrom zahrnující choroidální atrofii a alopecii","synonyms":["Regionální choroidální atrofie a alopecie","Moloneyův syndrom"]},"uk":{"name":"Синдром хоріоїдальної атрофії-алопеції","synonyms":["Синдром Молоні","Регіональна хоріоїдальна атрофія та алопеція"],"definition":"A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails."},"zh":{"name":"脉络膜萎缩-秃发综合征","synonyms":["局灶性脉络膜萎缩及秃发"]},"tr":{"name":"Koroidal atrofi-alopesi sendromu","synonyms":["Moloney sendromu","Bölgesel koroidal atrofi ve alopesi"]}},"xrefs":[{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1462521559"},{"source":"MONDO","code":"0015428","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535810","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931026","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3704","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":716299,"name":"Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"10994447[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10994447[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-04-28","source":"10994447[PMID]","terms":[{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000968","label":"Ectodermal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200102","label":"Sparse or absent eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100804","label":"Ungual fibroma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010793","label":"Bifid nail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040262","label":"Glue ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007791","label":"Patchy atrophy of the retinal pigment epithelium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008402","label":"Ridged fingernail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045074","label":"Thin eyebrow","frequency":"Occasional (29-5%)","criteria":null}]}}