{"orpha":1816,"name":"Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Berlin syndrome","Ectodermal dysplasia, Berlin type"],"definition":"Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1816/","orphanet_url":"https://www.orpha.net/en/disease/detail/1816","names":{"fr":{"name":"Syndrome de leucomélanodermie-infantilisme-déficience intellectuelle-hypodontie-hypotrichosis","synonyms":["Dysplasie ectodermique type Berlin"],"definition":"Syndrome rare de dysplasie ectodermique caractérisé par une leucomélanodermie congénitale généralisée, une hypodontie et une hypotrichose associées à un infantilisme, une déficience intellectuelle et un retard de croissance. Aucun cas n'a été décrit dans la littérature depuis 1961."},"de":{"name":"Leukomelanodermie-Infantilismus-Intelligenzminderung-Hypodontie-Hypotrichose-Syndrom","synonyms":["Berlin-Syndrom","Dysplasie, ektodermale, Typ Berlin"]},"es":{"name":"Síndrome de leucomelanodermia-infantilismo-discapacidad intelectual-hipodoncia-hipotricosis","synonyms":["Displasia ectodérmica tipo Berlin","Síndrome de Berlin"],"definition":"El síndrome de leucomelanodermia - infantilismo - discapacidad intelectual - hipodoncia - hipotricosis, es una displasia ectodérmica poco frecuente, caracterizada por melanoleucodermia congénita generalizada, hipodontia e hipotricosis asociada con infantilismo, discapacidad intelectual y retraso del crecimiento. No se han descrito más casos en la literatura desde 1961."},"it":{"name":"Sindrome da leucomelanodermia-infantilismo-disabilità intellettiva-ipodontia-ipotricosi","synonyms":["Displasia ectodermica tipo Berlin","Sindrome di Berlin"],"definition":"La sindrome che associa la leucomelanodermia, l'infantilismo, la disabilità intellettiva, l'ipodontia e l'ipotricosi è una displasia ectodermica rara, caratterizzata da melanoleucodermia generalizzata congenita, ipodontia ed ipotricosi, associate ad infantilismo, disabilità intellettiva e ritardo della crescita. Non sono stati descritti nuovi casi dopo il 1961."},"nl":{"name":"Leukomelanodermie - infantilisme - intellectuele achterstand - hypodontie - hypotrichose-syndroom","synonyms":["Berlijn-syndroom","Ectodermale dysplasie, Berlijn-type"],"definition":"Leukomelanodermie - infantilisme - intellectuele achterstand - hypodontie - hypotrichose-syndroom is een zeldzaam ectodermale dysplasiesyndroom dat gekarakteriseerd wordt door congenitale gegeneraliseerde melanoleukodermie, hypodontie en hypotrichose, geassocieerd met infantilisme, intellectuele achterstand en groeiachterstand. Sinds 1961 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de leucomelanodermia-infantilismo-perturbação do desenvolvimento intelectual-hipodontia-hipotricose","synonyms":["Displasia ectodérmica, tipo Berlin","Síndrome Berlim"]},"pl":{"name":"Zespół leukomelanodermii, infantylizmu, niepełnosprawności intelektualnej i hipotrichozy","synonyms":["Zespół Berlin","Dysplazja ektodermalna typu Berlin"],"definition":"*Zespół leukomelanodermii, infantylizmu, niepełnosprawności intelektualnej i hipotrichozy jest rzadką dysplazją ektodermalną, która charakteryzuje się wrodzoną uogólnioną melanoleukodermią (zaburzenie barwnikowe skóry), hipodoncją i hipotrychozą, z towarzyszącym infantylizmem, niepełnosprawnością intelektualną i opóźnieniem wzrastania. Od 1961 r. w literaturze nie ma nowych opisów."},"cs":{"name":"Ektodermální dysplázie, berlínský typ","synonyms":["Syndrom zahrnující leukomelanoderma, mentální retardaci a hypotrichózu"]},"uk":{"name":"Синдром лейкомеланодермії-інфантилізму-інтелектуальної недостатності-гіподонтії-гіпотрихозу","synonyms":["Синдром Берліна","Ектодермальна дисплазія, берлінський тип"],"definition":"Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961."},"zh":{"name":"白斑黑皮病-幼稚型-智力障碍-缺牙-稀毛综合征","synonyms":["Berlin综合征"]},"tr":{"name":"Lökomelanoderma-infantilizm-zihinsel yetersizlik-hipodonti-hipotrikoz sendromu","synonyms":["Ektodermal displazi, Berlin tipi","Berlin sendromu"]}},"xrefs":[{"source":"OMIM","code":"246500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"613435559"},{"source":"MONDO","code":"0009522","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406729","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2044","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":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"13867923[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_13867923[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007513","label":"Generalized hypopigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009721","label":"Shagreen patch","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null}]}}