{"orpha":85175,"name":"Astley-Kendall dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85175/","orphanet_url":"https://www.orpha.net/en/disease/detail/85175","names":{"fr":{"name":"Dysplasie type Astley-Kendall","definition":"La dysplasie de type Astley-Kendall est une dysplasie squelettique létale caractérisée par un nanisme micromélique, une ostéogenèse imparfaite, et des calcifications ponctuées dans le cartilage. Il a été décrit dans moins de dix cas."},"de":{"name":"Astley-Kendall-Dysplasie","definition":"Die Astley-Kendall-Dysplasie ist eine letale Skelettdysplasie mit Kleinwuchs, kurzen Gliedmaßen, Osteogenesis imperfecta und punktförmigen Knorpelverkalkungen."},"es":{"name":"Displasia de Astley-Kendall","definition":"Es una displasia esquelética letal poco frecuente caracterizada por enanismo de extremidades cortas, osteogénesis imperfecta y calcificación punteada dentro del cartílago. Hasta la fecha se ha descrito en menos de diez casos."},"it":{"name":"Displasia, tipo Astley-Kendall"},"nl":{"name":"Astley-Kendall-dysplasie","definition":"Een zeldzame, letale skeletdysplasie, gekarakteriseerd door dwerggroei met korte ledematen, osteogenesis imperfecta, en spikkelvormige calcificatie in kraakbeen. Er werden minder dan tien gevallen beschreven."},"pt":{"name":"Displasia de Astley-Kendall"},"pl":{"name":"Dysplazja Astley'a i Kendalla"},"cs":{"name":"Astleyho-Kendallův syndrom","synonyms":["Astley-Kendallův syndrom"]},"uk":{"name":"Дисплазія Естлі-Кендалла","definition":"A rare, lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases."},"zh":{"name":"Astley-Kendall发育不良"},"tr":{"name":"Astley-Kendall displazisi"}},"xrefs":[{"source":"ICD-10","code":"Q77.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.04","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1367227076"},{"source":"MONDO","code":"0019408","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535392","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1300228","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93442,"name":"Chondrodysplasia punctata","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"9643294[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9643294[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"9643294[PMID]","terms":[{"hpo":"HP:0002703","label":"Abnormality of skull ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008873","label":"Disproportionate short-limb short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010655","label":"Epiphyseal stippling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null}]}}