{"orpha":1883,"name":"Ectodermal dysplasia-sensorineural deafness syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Ectodermal dysplasia-sensorineural hearing loss syndrome"],"definition":"A rare ectodermal dysplasia syndrome characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. Thoracic scoliosis can also be present. There have been no further descriptions in the literature since 1970.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1883/","orphanet_url":"https://www.orpha.net/en/disease/detail/1883","names":{"fr":{"name":"Syndrome de dysplasie ectodermique-surdité neurosensorielle","definition":"Syndrome rare de dysplasie ectodermique caractérisé par une dysplasie ectodermique hidrotique, une surdité neurosensorielle et une contracture des 5<sup>es</sup>&nbsp;doigts. Une scoliose thoracique peut également s'observer. Aucun cas n'a été décrit dans la littérature depuis 1970."},"de":{"name":"Ektodermale Dysplasie-sensorineurale Schwerhörigkeit-Syndrom","synonyms":["Ektodermale Dysplasie-sensorineuraler Hörverlust-Syndrom"],"definition":"Ein seltenes Ektodermale-Dysplasie-Syndrom, das durch hidrotische ektodermale Dysplasie, sensorineuralen Hörverlust und Kontraktur der fünften Finger gekennzeichnet ist. Eine thorakale Skoliose kann ebenfalls vorhanden sein. Seit 1970 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de displasia ectodérmica-sordera neurosensorial","synonyms":["Síndrome de displasia ectodérmica-hipoacusia neurosensorial"],"definition":"Es síndrome poco frecuente de displasia ectodérmica caracterizado por displasia ectodérmica hidrótica, hipoacusia neurosensorial y contractura del quinto dedo de la mano. También puede asociar escoliosis torácica. No se han descrito más casos en la literatura desde 1970."},"it":{"name":"Sindrome displasia ectodermica-sordità neurosensoriale"},"nl":{"name":"Ectodermale dysplasie - sensorineurale doofheid-syndroom","synonyms":["Ectodermale dysplasie - sensorineuraal gehoorverlies-syndroom"],"definition":"Een zeldzaam ectodermaal dysplasiesyndroom, gekenmerkt door hidrotische ectodermale dysplasie, sensorineuraal gehoorverlies, en contractuur van vijfde vingers. Thoracale scoliose kan ook aanwezig zijn. Sinds 1970 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de displasia ectodérmica-surdez neurossensorial","definition":"Síndrome displasia ectodérmica rara caracterizada por displasia ectodérmica hidrótica, perda auditiva neurossensorial e contratura do quinto dedo. A escoliose torácica também pode estar presente. Não existem descrições adicionais na literatura desde 1970."},"pl":{"name":"Zespół dysplazji ektodermalnej i głuchoty czuciowo-nerwowej","synonyms":["Ectodermal dysplasia-sensorineural hearing loss syndrome"],"definition":"Rzadki zespół dysplazji ektodermalnej, charakteryzujący się hydrotyczną dysplazją ektodermalną, niedosłuchem czuciowo-nerwowym i przykurczem piątego palca. Może również występować skolioza piersiowa. Od 1970 r. nie ma dalszych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující ektodermální dysplázii a senzorineurální hluchotu","synonyms":["Ectodermal dysplasia-sensorineural hearing loss syndrome"]},"uk":{"name":"Синдром ектодермальної дисплазії- сенсоневральної приглухуватості","synonyms":["Синдром ектодермальної дисплазії - сенсоневральної приглухуватості"],"definition":"Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive."},"zh":{"name":"外胚层发育不良-感音神经性耳聋综合征","synonyms":["外胚层发育不良-感音神经性耳聋综合征"]},"tr":{"name":"Ektodermal displazi-sensorinöral sağırlık sendromu","synonyms":["Ektodermal displazi-sensörinöral işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"224800","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":"933665462"},{"source":"MONDO","code":"0009146","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518541","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9723","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":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5422345[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"5422345[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007529","label":"Hidrotic ectodermal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009183","label":"Joint contracture of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","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:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002299","label":"Brittle hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null}]}}