{"orpha":93383,"name":"Brachydactyly type B","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital limb malformation syndrome characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails. The thumbs are always intact but frequently show flattening, splitting or duplication of the distal phalanges. Digits on the radial side of the hand are less severely affected than those on the ulnar side. The feet are similarly affected but less severely. Soft tissue syndactyly, symphalangism, carpal and/or tarsal fusions and shortening of metacarpals and/or metatarsals may be present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93383/","orphanet_url":"https://www.orpha.net/en/disease/detail/93383","names":{"fr":{"name":"Brachydactylie type B","definition":"Anomalie congénitale rare des membres caractérisée par une hypoplasie ou une aplasie des parties terminales des doigts 2 à 5 et une absence complète d'ongles. Les pouces sont toujours normaux mais présentent fréquemment des phalanges distales aplaties, fendues ou dupliquées. Les doigts du côté radial sont moins sévèrement affectés que les doigts du côté ulnaire. Les pieds sont également touchés mais moins sévèrement que les mains. Une syndactylie des tissus mous, une symphalangie, des fusions carpiennes ou tarsiennes et un raccourcissement des métacarpiens et/ou des métatarsiens peuvent être présents."},"de":{"name":"Brachydaktylie Typ B","definition":"Eine seltene angeborene Fehlbildung der Extremitäten, gekennzeichnet durch Hypoplasie oder Aplasie der Endglieder der Finger 2 bis 5 mit völligem Fehlen der Fingernägel. Die Daumen sind immer intakt, weisen aber häufig eine Abflachung, Spaltung oder Verdoppelung der distalen Phalangen auf. Die Zehen auf der radialen Seite der Hand sind weniger betroffen als die auf der ulnaren Seite. Die Füße sind in ähnlicher Weise betroffen, jedoch weniger ausgeprägt. Weichteilsyndaktylie, Symphalangismus, Karpal- und/oder Tarsalfusionen und Verkürzungen der Metakarpalia und/oder Metatarsalia können vorhanden sein."},"es":{"name":"Braquidactilia tipo B","definition":"Es un síndrome de malformación congénita de las extremidades poco frecuente caracterizado por hipoplasia o aplasia de las partes terminales de los dedos 2 a 5, con ausencia completa de las uñas. Los pulgares siempre están intactos, pero con frecuencia presentan aplanamiento, división o duplicación de las falanges distales. Los dedos del lado radial de la mano están menos afectados que los del lado ulnar. Los pies están afectados de manera similar, pero con menor gravedad. Puede darse también sindactilia de tejidos blandos, sinfalangismo, fusiones tarsianas y/o carpianas y acortamiento de metacarpianos y/o metatarsianos."},"it":{"name":"Brachidattilia, tipo B"},"nl":{"name":"Brachydactylie type B","definition":"Een zeldzaam congenitaal malformatiesyndroom van ledematen, gekarakteriseerd door hypoplasie of aplasie van terminale delen van vingers 2 tot 5, met volledige afwezigheid van vingernagels. Duimen zijn altijd intact maar vertonen vaak afvlakking, splijting of duplicatie van distale falangen. Vingers aan de radiale zijde worden minder ernstig getroffen dan vingers aan de ulnaire zijde. Voeten worden op dezelfde manier aangetast, maar minder ernstig. Syndactylie van weke delen, symfalangisme, fusie van carpalen en/of tarsalen en abnormaal korte metacarpalen en/of metatarsalen kunnen aanwezig zijn."},"pt":{"name":"Braquidactilia tipo B","definition":"A braquidactilia tipo B (BDB) é uma malformação congénita muito rara caracterizada por hipoplasia ou aplasia das partes terminais dos dedos 2 a 5, com ausência completa de unhas."},"pl":{"name":"Brachydaktylia typu B"},"cs":{"name":"Brachydaktylie, typ B"},"uk":{"name":"Брахідактилія, тип В","definition":"A rare congenital limb malformation syndrome characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails. The thumbs are always intact but frequently show flattening, splitting or duplication of the distal phalanges. Digits on the radial side of the hand are less severely affected than those on the ulnar side. The feet are similarly affected but less severely. Soft tissue syndactyly, symphalangism, carpal and/or tarsal fusions and shortening of metacarpals and/or metatarsals may be present."},"zh":{"name":"短指（趾）畸形B型","definition":"短指畸形B型（BDB）是一种非常罕见的先天性畸形，其特征是2～5指末端发育不全或不发育、指甲完全缺失。"},"tr":{"name":"Brakidaktili tip B"}},"xrefs":[{"source":"OMIM","code":"113000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611377","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":"1534264812"},{"source":"MONDO","code":"0019676","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1300267","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"985","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":93389,"name":"Brachydactyly type A5","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":[{"orpha":572385,"name":"Brachydactyly type B1","type":"Clinical subtype"},{"orpha":140908,"name":"Brachydactyly type B2","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"ROR2","name":"receptor tyrosine kinase like orphan receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"24954533[PMID]_18554391[PMID]","hgnc":"10257","ensembl":"ENSG00000169071","omim":"602337","loci":["9q22.31"],"via":{"orpha":572385,"name":"Brachydactyly type B1"}},{"symbol":"NOG","name":"noggin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17668388[PMID]","hgnc":"7866","ensembl":"ENSG00000183691","omim":"602991","loci":["17q22"],"via":{"orpha":140908,"name":"Brachydactyly type B2"}}],"inheritance":["Autosomal dominant"],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET_18554391[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"18554391[PMID]","terms":[{"hpo":"HP:0008083","label":"2nd-5th toe middle phalangeal hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001817","label":"Absent fingernail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005831","label":"Type B brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009773","label":"Symphalangism affecting the phalanges of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Occasional (29-5%)","criteria":null}]}}