{"orpha":3200,"name":"Arthrogryposis-ectodermal dysplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Stoll-Alembik-Finck syndrome"],"definition":"A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3200/","orphanet_url":"https://www.orpha.net/en/disease/detail/3200","names":{"fr":{"name":"Syndrome d'arthrogrypose-dysplasie ectodermique","synonyms":["Syndrome de Stoll-Alembik-Finck"],"definition":"Anomalie rare du développement embryonnaire d'origine génétique, caractérisée par une camptodactylie, des contractures articulaires avec une amyotrophie, et des anomalies ectodermiques (oligodontie, anomalie de l'email des dents, cassure longitudinale des ongles, peau hypohidrotique avec une tendance excessive aux ecchymoses et aux cicatrices après une blessure ou après s'être gratté), ainsi que par un retard de croissance, une cyphoscoliose, une légère dysmorphie faciale et une microcéphalie. Aucun cas n'a été décrit dans la littérature depuis 1992."},"de":{"name":"Arthrogrypose-ektodermale Dysplasie-Syndrom","synonyms":["Stoll-Alembik-Finck-Syndrom"],"definition":"Ein syndromaler Entwicklungsdefekt während der Embryogenese, der durch Kamptodaktylie, Gelenkkontrakturen mit Amyotrophie und ektodermale Anomalien (Oligodontie, Schmelzfehlbildungen, längs gebrochene Nägel, hypohidrotische Haut mit Neigung zu übermäßigen Blutergüssen und Narbenbildung nach Verletzungen und Kratzern) sowie Wachstumsverzögerung, Kyphoskoliose, leichte Gesichtsdysmorphie und Mikrozephalie gekennzeichnet ist. Seit 1992 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de artrogriposis-displasia ectodérmica-otras anomalías","synonyms":["Síndrome de Stoll-Alembik-Finck"],"definition":"Es un síndrome de origen genético y poco frecuente causado por un defecto del desarrollo embrionario. Está caracterizado por camptodactilia, contracturas articulares con amiotrofia y anomalías ectodérmicas (oligodontia, anomalías del esmalte, fisuras longitudinales de la lámina ungueal, piel hipohidrótica con excesiva tendencia a hematomas y cicatrización tras lesiones y rasguños), así como retraso del crecimiento, cifoescoliosis, leve dismorfia facial y microcefalia. No se han descrito más casos en la literatura desde 1992."},"it":{"name":"Artrogriposi - displasia ectodermica - altre anomalie","definition":"È un difetto genetico raro dello sviluppo dell'embrione, caratterizzato da camptodattilia, contratture articolari associate ad amiotrofia, anomalie ectodermiche (oligodontia, anomalie dello smalto dei denti, unghie spezzate longitudinalmente, cute ipoidrotica con marcata tendenza alle ecchimosi e alle cicatrici a seguito di ferite e graffi), ritardo della crescita, cifoscoliosi, dismorfismi facciali sfumati e microcefalia. Non sono stati descritti nuovi casi dopo il 1992."},"nl":{"name":"Artrogrypose - ectodermale dysplasie - andere anomalieën-syndroom","synonyms":["Syndroom van Stoll-Alembik-Finck"],"definition":"Een zeldzaam, genetisch syndroom met een ontwikkelingsdefect tijdens de embryogenese dat gekarakteriseerd wordt door camptodactylie, gewrichtscontracturen met amyotrofie, en ectodermale anomalieën (oligodontie, afwijkingen van het tandglazuur, longitudinaal gebroken nagels, hypohidrotische huid met neiging tot overmatige kneuzing en littekenvorming na verwonding en krabben), alsook groeiretardatie, kyfoscoliose, milde faciale dysmorfie, en microcefalie. Sinds 1992 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de artrogripose-displasia ectodérmica","synonyms":["Síndrome Stoll-Alembik-Finck"]},"pl":{"name":"Zespół Stolla, Alembika i Fincka","synonyms":["Artrogrypoza - dysplazja ektodermalna - inne wady"]},"cs":{"name":"Stollův-Alembikův-Finckův syndrom","synonyms":["Syndrom zahrnující artrogrypózu, ektodermální dysplázii a jiné anomálie","Stoll-Alembik-Finckův syndrom"]},"uk":{"name":"Синдром артрогрипозу-ектодермальної дисплазії","synonyms":["Синдром Штолля-Алембіка-Фінка"],"definition":"A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992."},"zh":{"name":"关节挛缩-外胚层发育异常综合征","synonyms":["Stoll-Alembik-Finck综合征"]},"tr":{"name":"Artrogripozis-ektodermal displazi sendromu","synonyms":["Stoll-Alembik-Finck sendromu"]}},"xrefs":[{"source":"OMIM","code":"601701","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044406","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"44406","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191837","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5029","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":3354,"name":"OBSOLETE: Tricho-oculo-dermo-vertebral syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":97120,"name":"Distal arthrogryposis","classifications":[147,156]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"1590979[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1590979[PMID]"}],"phenotypes":null}