{"orpha":93387,"name":"Brachydactyly type E","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93387/","orphanet_url":"https://www.orpha.net/en/disease/detail/93387","names":{"fr":{"name":"Brachydactylie type E","definition":"La brachydactylie de type E (BDE) est une malformation congénitale des doigts caractérisée par un raccourcissement variable des métacarpes avec des phalanges de taille plus ou moins normale bien que les phalanges terminales soient souvent petites."},"de":{"name":"Brachydaktylie Typ E"},"es":{"name":"Braquidactilia tipo E","definition":"La braquidactilia tipo E (BDE) es una malformación congénita de los dedos caracterizada por un acortamiento variable de los metacarpianos, con una longitud de las falanges más o menos normal, aunque las falanges terminales suelen ser cortas."},"it":{"name":"Brachidattilia, tipo E"},"nl":{"name":"Brachydactylie type E","definition":"Een congenitale malformatie van digitus, gekenmerkt door variabel abnormaal korte lengte van metacarpalen met min of meer normale lengte van falangen, hoewel terminale falangen vaak kort zijn."},"pt":{"name":"Braquidactilia tipo E","definition":"A braquidactilia tipo E (BDE) é uma malformação congénita dos dedos caracterizada por encurtamento variável dos metacarpos, com comprimento da falanges mais ou menos normal, apesar das falanges terminais serem frequentemente curtas."},"pl":{"name":"Brachydaktylia typu E"},"cs":{"name":"Brachydaktylie, typ E"},"uk":{"name":"Брахідактилія, тип Е","definition":"Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short."},"zh":{"name":"短指（趾）畸形E型","definition":"短指/趾畸形E型（BDE）是指/趾的一种先天性畸形，其特征是掌骨不同程度的变短，指骨长度差不多基本正常，而末节指骨通常缩短。"},"tr":{"name":"Brakidaktili tip E"}},"xrefs":[{"source":"OMIM","code":"113300","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"613382","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":"712007423"},{"source":"MONDO","code":"0019677","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566194","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4315392","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"987","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":93395,"name":"Ballard syndrome","status":"inactive"}],"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":"PTHLH","name":"parathyroid hormone like hormone","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20170896[PMID]","hgnc":"9607","ensembl":"ENSG00000087494","omim":"168470","loci":["12p11.22"]},{"symbol":"HOXD13","name":"homeobox D13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12649808[PMID]","hgnc":"5136","ensembl":"ENSG00000128714","omim":"142989","loci":["2q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET_18554391[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005863","label":"Type E brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010076","label":"Aplasia/Hypoplasia of the distal phalanx of the hallux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010743","label":"Short metatarsal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100560","label":"Upper limb asymmetry","frequency":"Occasional (29-5%)","criteria":null}]}}