{"orpha":63446,"name":"Acrocapitofemoral dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-63446/","orphanet_url":"https://www.orpha.net/en/disease/detail/63446","names":{"fr":{"name":"Dysplasie acro-capito-fémorale","definition":"La dysplasie acro-capito-fémorale est une dysplasie squelettique récemment décrite associant une petite taille de degré variable, des membres courts, une brachydactylie et un thorax étroit."},"de":{"name":"Dysplasie, akro-capito-femorale","definition":"Die Acro-capito-femorale Dysplasie, eine kürzlich beschriebene Skelettdysplasie, ist klinisch gekennzeichnet durch unterschiedlich schweren Kleinwuchs mit kurzen Gliedmaßen, Brachydaktylie und schmalem Thorax."},"es":{"name":"Displasia acrocapitofemoral","definition":"Es una displasia esquelética caracterizada por una estatura baja de grado variable, extremidades cortas, braquidactilia y tórax estrecho."},"it":{"name":"Displasia acro-capito-femorale"},"nl":{"name":"Acro-capito-femorale dysplasie","definition":"Een zeldzame skeletdysplasie, klinisch gekarakteriseerd door kleine gestalte met variabele gradaties en korte ledematen, brachydactylie en smalle thorax."},"pt":{"name":"Displasia acrocapitofemoral","definition":"A displasia acrocapitofemoral é uma displasia esquelética recentemente delineada, caracterizada clinicamente por baixa estatura de graus variáveis com membros curtos, braquidactilia e tórax estreito."},"pl":{"name":"Dysplazja kończyn i głowy kości udowej"},"cs":{"name":"Akrokapitofemorální dysplázie"},"uk":{"name":"Акрокапітофеморальна дисплазія","definition":"A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax."},"zh":{"name":"锥形股骨骨骺发育不良"},"tr":{"name":"Akrokapitofemoral displazi"}},"xrefs":[{"source":"OMIM","code":"607778","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.8Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"687396416"},{"source":"MONDO","code":"0011907","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564334","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843096","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10605","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93436,"name":"Acromelic dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"IHH","name":"Indian hedgehog signaling molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12632327[PMID]","hgnc":"5956","ensembl":"ENSG00000163501","omim":"600726","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"12624140[PMID]","terms":[{"hpo":"HP:0003367","label":"Abnormal femoral neck morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010579","label":"Cone-shaped epiphysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001821","label":"Broad nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006059","label":"Cone-shaped metacarpal epiphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002869","label":"Flared iliac wings","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003300","label":"Ovoid vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Occasional (29-5%)","criteria":null}]}}