{"orpha":93384,"name":"Brachydactyly type C","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital limb malformation characterized by hypoplastic middle phalanges of fingers 2, 3, and 5, with relative sparing of finger 4, as well as hyperphalangy most commonly affecting fingers 2 and 3, shortening of the first metacarpal with short thumb, and ulnar deviation of fingers 2 and 3. The severity of the malformation is highly variable.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93384/","orphanet_url":"https://www.orpha.net/en/disease/detail/93384","names":{"fr":{"name":"Brachydactylie type C","definition":"Anomalie congénitale rare des membres caractérisée par une hypoplasie des phalanges moyennes des 2<sup>e</sup>, 3<sup>e</sup> et 5<sup>e</sup> doigts, épargnant relativement le 4<sup>e</sup> doigt, ainsi qu'une hyperphalangie affectant le plus souvent les 2<sup>e</sup> et 3<sup>e</sup> doigts, un raccourcissement du premier métacarpien et du pouce, ainsi qu'une déviation ulnaire des 2<sup>e</sup> et 3<sup>e</sup> doigts. La sévérité de la malformation est très variable."},"de":{"name":"Brachydaktylie Typ C","definition":"Eine seltene angeborene Fehlbildung der Extremitäten, die durch hypoplastische Mittelphalangen der Finger 2, 3 und 5 gekennzeichnet ist, wobei der Finger 4 relativ verschont bleibt, sowie durch eine Hyperphalangie, die am häufigsten die Finger 2 und 3 betrifft, eine Verkürzung des ersten Mittelhandknochens mit kurzem Daumen und eine Ulnardeviation der Finger 2 und 3. Der Schweregrad der Fehlbildung ist sehr variabel."},"es":{"name":"Braquidactilia tipo C","definition":"Es una malformación congénita poco frecuente de las extremidades caracterizada por hipoplasia de las falanges medias de los dedos segundo, tercero y quinto de la mano, con una relativa preservación del cuarto dedo, así como hiperfalangia afectando con mayor frecuencia a los dedos 2 y 3, acortamiento del primer metacarpiano con pulgar corto y desviación cubital de los dedos 2 y 3. La gravedad de la malformación es altamente variable."},"it":{"name":"Brachidattilia tipo C","definition":"Si tratta di una malformazione congenita rara degli arti, caratterizzata da ipoplasia delle falangi medie del secondo, terzo e quinto dito della mano, che risparmia relativamente il quarto dito, iperfalangia che in genere interessa il secondo e il terzo dito, accorciamento del primo metacarpo con pollice corto, e deviazione ulnare del secondo e del terzo dito. La gravità della malformazione è molto variabile."},"nl":{"name":"Brachydactylie type C","definition":"Een zeldzame congenitale malformatie van ledemaat, gekarakteriseerd door hypoplastische middelste falangen van vingers 2, 3 en 5, met relatief gespaard blijven van vinger 4, alsook hyperfalangie die meestal vingers 2 en 3 aantast, abnormaal kort eerste metacarpaal met korte duim, en ulnaire deviatie van vingers 2 en 3. De ernst van de malformatie is zeer variabel."},"pt":{"name":"Braquidactilia tipo C","definition":"A braquidactilia tipo C (BDC) é uma malformação congénita muito rara caracterizada por braquimesofalangia dos dedos indicador, do meio e mínimo, com hiperfalangia dos dedos indicador e do meio, e encurtamento do primeiro metacarpo."},"pl":{"name":"Brachydaktylia typu C"},"cs":{"name":"Brachydaktylie, typ C"},"uk":{"name":"Брахідактилія, тип С","definition":"A rare congenital limb malformation characterized by hypoplastic middle phalanges of fingers 2, 3, and 5, with relative sparing of finger 4, as well as hyperphalangy most commonly affecting fingers 2 and 3, shortening of the first metacarpal with short thumb, and ulnar deviation of fingers 2 and 3. The severity of the malformation is highly variable."},"zh":{"name":"短指（趾）畸形C型","definition":"短指畸形C型（BDC）是一种非常罕见的先天性畸形，其特征是食指、中指和小指短中指骨畸形、食指和中指多指骨、第1掌骨缩短。既往被报道有BDC的家庭很少。无名指通常是最长的手指。偶尔见短掌骨和指关节粘连。BDC患者中已有软骨源性形态发生蛋白1基因（也称为生长/分化因子-5基因, GDF5）的杂合子突变报道。许多研究支持该病呈常染色体显性遗传。"},"tr":{"name":"Brakidaktili tip C"}},"xrefs":[{"source":"OMIM","code":"113100","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":"956707061"},{"source":"MONDO","code":"0007221","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537093","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862103","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"986","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":"Candidate gene tested in","status":"Not yet assessed","source":"16957682[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":"12357473[PMID]","hgnc":"4220","ensembl":"ENSG00000125965","omim":"601146","loci":["20q11.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"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":"18554391[PMID]","terms":[{"hpo":"HP:0010026","label":"Aplasia/Hypoplasia of the 1st metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009495","label":"Pseudoepiphyses of the 2nd finger","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:0009373","label":"Type C brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009606","label":"Complete duplication of distal phalanx of the thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010579","label":"Cone-shaped epiphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010743","label":"Short metatarsal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009684","label":"Stippling of the epiphysis of the distal phalanx of the thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010508","label":"Metatarsus valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009773","label":"Symphalangism affecting the phalanges of the hand","frequency":"Occasional (29-5%)","criteria":null}]}}