{"orpha":93388,"name":"Brachydactyly type A1","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Brachydactyly, Farabee type"],"definition":"A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93388/","orphanet_url":"https://www.orpha.net/en/disease/detail/93388","names":{"fr":{"name":"Brachydactylie type A1","synonyms":["Brachydactylie type Farabee"],"definition":"La brachydactylie de type A1 (BDA1) est une malformation congénitale caractérisée par un raccourcissement évident (ou une absence) des phalanges moyennes de tous les doigts et par une fusion ponctuelle des phalanges terminales."},"de":{"name":"Brachydaktylie Typ A1","synonyms":["Brachydaktylie Typ Farabee"],"definition":"Die Brachydaktylie Typ A1 (BDA1) ist eine angeborene Fehlbildung mit an allen Fingern verkürzten oder fehlenden Mittelphalangen und gelegentlicher Fusion von Mittel- und Endphalangen. Die Grundphalanx der Daumen und Großzehen ist verkürzt. Die Betroffenen haben als Erwachsene eine eher geringe Körpergröße."},"es":{"name":"Braquidactilia tipo A1","definition":"Es una malformación congénita poco frecuente de las extremidades que se caracteriza por el acortamiento o el infradesarrollo de las falanges medias de todos los dedos, que en ocasiones se fusionan con las falanges terminales. Las falanges proximales de los pulgares y los primeros dedos del pie también están acortadas. Se ha descrito la asociación con talla baja en la edad adulta."},"it":{"name":"Brachidattilia, tipo A1","synonyms":["Brachidattilia, tipo Farabee"]},"nl":{"name":"Brachydactylie type A1","synonyms":["Brachydactylie, Farabee-type"],"definition":"Een zeldzame, congenitale malformatie van ledemaat, gekarakteriseerd door abnormaal korte of onderontwikkelde middelste falangen van alle digiti, die soms met elkaar gefuseerd zijn via de terminale falangen. De proximale falangen van duimen en grote tenen zijn ook verkort. Er werd associatie van kleine gestalte in de volwassenheid gerapporteerd."},"pt":{"name":"Braquidactilia tipo A1","synonyms":["Braquidactilia, tipo Farabee"],"definition":"A braquidactilia tipo A1 (BDA1) é uma malformação congénita caracterizada por encurtamento (ou ausência) das falanges médias de todos os dedos e fusão ocasional com as falanges terminais."},"pl":{"name":"Brachydaktylia typu A1","synonyms":["Brachydaktylia, typ Farabee"]},"cs":{"name":"Brachydaktylie, typ A1","synonyms":["Brachydaktylie, Farabeeův typ"]},"uk":{"name":"Брахідактилія, тип А1","synonyms":["Брахідактилія, тип Фарабея"],"definition":"A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association."},"zh":{"name":"短指（趾）畸形A1型","synonyms":["短指（趾）畸形，Farabee型"],"definition":"短指/趾畸形A1型（BDA1）是一种先天性畸形，其特征是所有手指的中间指骨明显变短（或缺失），偶尔与末节指骨融合。"},"tr":{"name":"Brakidaktili tip A1","synonyms":["Brakidaktili, Farabee tipi"]}},"xrefs":[{"source":"OMIM","code":"112500","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"607004","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615072","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616849","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q73.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"568452529"},{"source":"MONDO","code":"0007215","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537088","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862151","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"978","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498451,"name":"Dysostosis with brachydactyly without extraskeletal manifestations","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"BMPR1B","name":"bone morphogenetic protein receptor type 1B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25758993[PMID]","hgnc":"1077","ensembl":"ENSG00000138696","omim":"603248","loci":["4q22.3"]},{"symbol":"GDF5","name":"growth differentiation factor 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20683927[PMID]","hgnc":"4220","ensembl":"ENSG00000125965","omim":"601146","loci":["20q11.22"]},{"symbol":"IHH","name":"Indian hedgehog signaling molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11455389[PMID]","hgnc":"5956","ensembl":"ENSG00000163501","omim":"600726","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18554391[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001773","label":"Short foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010109","label":"Short hallux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005819","label":"Short middle phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010579","label":"Cone-shaped epiphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001230","label":"Broad metacarpals","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001204","label":"Distal symphalangism (hands)","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null}]}}