{"orpha":1962,"name":"Exostoses-anetodermia-brachydactyly type E syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1962/","orphanet_url":"https://www.orpha.net/en/disease/detail/1962","names":{"fr":{"name":"Syndrome d'exostoses-anétodermie-brachydactylie type E","definition":"Association décrite dans une seule famille, de signes cliniques inconstants suivants&nbsp;: anétodermie (atrophie maculaire de la peau), exostoses multiples et brachydactylie type&nbsp;E. Aucun nouveau cas n'a été décrit dans la littérature depuis&nbsp;1985."},"de":{"name":"Exostosen-Anetodermie-Brachydaktylie Typ E-Syndrom","definition":"Exostosen-Anetodermie-Brachydaktylie Typ E-Syndrom ist eine Assoziation, die bisher in einer einzigen Familie beschrieben wurde und die durch das variable Vorhandensein der folgenden Merkmale gekennzeichnet ist: Anetodermie (Makulaatrophie der Haut), multiple Exostosen und Brachydaktylie Typ E (s. dort). In der Literatur gibt es seit 1985 keine weiteren Beschreibungen dieser Erkrankung."},"es":{"name":"Síndrome de exostosis-anetodermia-braquidactilia tipo E","definition":"Es una asociación descrita en una única familia que se caracteriza por la presencia variable de los siguientes rasgos: anetodermia (atrofia macular de la piel), exostosis múltiple y braquidactalia tipo E. No se han descrito más casos en la literatura desde 1985."},"it":{"name":"Esostosi - anetodermia - brachidattilia tipo E","definition":"La sindrome esostosi-anetodermia-brachidattilia tipo E è un'associazione descritta in una sola famiglia che presentava, in maniera variabile, i seguenti segni clinici: anetodermia (atrofia maculare della cute), esostosi multiple e brachidattilia tipo E (si veda questo termine). Dal 1985 non sono stati descritti altri casi."},"nl":{"name":"Exostose - anetodermie - brachydactylie type E-syndroom","definition":"Een associatie gerapporteerd in één enkele familie en gekarakteriseerd door de variabele aanwezigheid van anetodermie (maculaire atrofie van huid), multipele exostosen, en brachydactylie type E. Sinds 1985 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de exostoses-anetodermia-braquidactilia tipo E"},"pl":{"name":"Egzostoza - zanik plamisty skóry - brachydaktylia typu E"},"cs":{"name":"Syndrom zahrnující exostózy, anetodermii a brachydaktylii typu E"},"uk":{"name":"Синдром екзостозів-анетодермії-брахідактилії, тип Е","definition":"An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985."},"zh":{"name":"外生骨疣-皮肤松垂-侏儒-短指（趾）综合征E型"},"tr":{"name":"Ekzostoz-anetodermi-brakidaktili tip E sendromu"}},"xrefs":[{"source":"OMIM","code":"133690","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.21","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2136077423"},{"source":"MONDO","code":"0007584","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518772","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93450,"name":"Primary bone dysplasia with disorganized development of skeletal components","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"6334993[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6334993[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004334","label":"Dermal atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002762","label":"Multiple exostoses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005863","label":"Type E brachydactyly","frequency":"Very frequent (99-80%)","criteria":null}]}}