{"orpha":93396,"name":"Brachydactyly type A2","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Brachydactyly, Mohr-Wriedt type"],"definition":"A rare, congenital limb malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb phenotype is generally milder.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93396/","orphanet_url":"https://www.orpha.net/en/disease/detail/93396","names":{"fr":{"name":"Brachydactylie type A2","synonyms":["Brachydactylie de Mohr-Wriedt"],"definition":"La brachydactylie de type A2 (BDA2) est une malformation congénitale caractérisée par un raccourcissement (hypoplasie ou aplasie) des phalanges moyennes de l'index et, parfois, du petit doigt."},"de":{"name":"Brachydaktylie Typ A2","synonyms":["Brachydaktylie Typ Mohr-Wriedt"],"definition":"Die Brachydaktylie Typ A2 (BDA2) ist eine angeborene Fehlbildung der Gliedmaßen, die gekennzeichnet ist durch Verkürzung, Hypoplasie oder Aplasie der Mittelphalanx des Zeigefingers und manchmal auch des Kleinfingers. Nur wenige Fälle wurden bisher beschrieben. Charakteristisch ist die dreieckige Form der Mittelphalanx des Zeigefingers. In schweren Fällen ist der Zeigefinger nach radial verbogen."},"es":{"name":"Braquidactilia tipo A2","synonyms":["Braquidactilia tipo Mohr-Wriedt"],"definition":"Es una malformación congénita poco frecuente de las extremidades que se caracteriza por el acortamiento (hipoplasia o aplasia) de las falanges medias del dedo índice y, en ocasiones, del quinto dedo de la mano. En las radiografías, la falange media de los dedos índice suele tener un aspecto triangular y, en los casos gravemente afectados, el dedo índice está curvado radialmente. El fenotipo de las extremidades inferiores suele ser más leve."},"it":{"name":"Brachidattilia, tipo A2","synonyms":["Brachidattilia, tipo Mohr-Wriedt"]},"nl":{"name":"Brachydactylie type A2","synonyms":["Brachydactylie, Mohr-Wriedt-type"],"definition":"Een zeldzame, congenitale malformatie van ledemaat, gekarakteriseerd door abnormaal korte (hypoplasie of aplasie) middelste falangen van wijsvinger en, soms, van vijfde vinger. Bij radiografie lijkt het middelste kootje van de wijsvingers vaak driehoekig en in ernstige gevallen is de wijsvinger radiaal gebogen. Het fenotype van onderste ledematen is doorgaans milder."},"pt":{"name":"Braquidactilia tipo A2","synonyms":["Braquidactilia tipo Mohr-Wriedt"],"definition":"A braquidactilia tipo A2 (BDA2) é uma malformação congénita caracterizada pelo encurtamento (hipoplasia ou aplasia) das falanges médias do dedo indicador e, por vezes, do dedo mínimo."},"pl":{"name":"Brachydaktylia typu A2","synonyms":["Brachydaktylia, Mohra i Wriedta"]},"cs":{"name":"Brachydaktylie, typ A2","synonyms":["Brachydaktylie, Mohrův-Wriedtův typ","Brachydaktylie, Mohr-Wriedtův typ"]},"uk":{"name":"Брахідактилія, тип А2","synonyms":["Брахідактилія, тип Мор-Врідта"],"definition":"A rare, congenital limb malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb phenotype is generally milder."},"zh":{"name":"短指（趾）畸形A2型","synonyms":["短指（趾）畸形，Mohr-Wriedt型"],"definition":"短指畸形A2型（BDA2）是一种先天性畸形，其特征是食指中指骨缩短（发育不全或不发育），有时为小指受累。"},"tr":{"name":"Brakidaktili tip A2","synonyms":["Brakidaktili, Mohr-Wriedt tipi"]}},"xrefs":[{"source":"OMIM","code":"112600","qualifier":"E","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":"594491464"},{"source":"MONDO","code":"0007216","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537089","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832702","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"979","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":"BMP2","name":"bone morphogenetic protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19327734[PMID]_24710560[PMID]","hgnc":"1069","ensembl":"ENSG00000125845","omim":"112261","loci":["20p12.3"]},{"symbol":"BMPR1B","name":"bone morphogenetic protein receptor type 1B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14523231[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) in","status":"Assessed","source":"16014698[PMID]","hgnc":"4220","ensembl":"ENSG00000125965","omim":"601146","loci":["20q11.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"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"},{"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":"18554391[PMID]","terms":[{"hpo":"HP:0009372","label":"Type A2 brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009568","label":"Aplasia/Hypoplasia of the middle phalanx of the 2nd finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010038","label":"Short 2nd metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005819","label":"Short middle phalanx of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004220","label":"Short middle phalanx of the 5th finger","frequency":"Occasional (29-5%)","criteria":null}]}}