{"orpha":93397,"name":"Brachydactyly type A7","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Brachydactyly, Smorgasbord type"],"definition":"A rare dysostosis with brachydactyly characterized by variable combinations of features of brachydactyly types A2 (such as delta-shaped middle phalanx of the second finger or toe) and D (short, broad distal phalanx of the thumb) and other types of brachydactyly (symphalangism), as well as unique features (dislocatable thumbs, lateral deviation of second toes with elevation of first toes). There have been no further descriptions in the literature since 1989.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93397/","orphanet_url":"https://www.orpha.net/en/disease/detail/93397","names":{"fr":{"name":"Brachydactylie type A7","synonyms":["Brachydactylie de Smorgasbord"],"definition":"Dysostose avec brachydactylie rare caractérisée par des associations variables de signes de la brachydactylie type A2 (phalange moyenne du deuxième doigt ou orteil en forme de delta) et type D (phalange distale du pouce courte et large) et d'autres types de brachydactylie (symphalangisme), ainsi que des caractéristiques uniques (pouces luxables, déviation latérale du deuxième orteil avec élévation du premier orteil). Aucun cas n'a été décrit dans la littérature depuis 1989."},"de":{"name":"Brachydaktylie Typ A7","synonyms":["Brachydaktylie Typ Smørgasbord"],"definition":"Eine seltene Dysostose mit Brachydaktylie, die durch variable Kombinationen von Merkmalen der Brachydaktylie-Typen A2 (z. B. deltaförmige Mittelphalanx des zweiten Fingers oder der zweiten Zehe) und D (kurze, breite distale Phalanx des Daumens) und anderer Brachydaktylie-Typen (Symphalangismus) sowie durch einzigartige Merkmale (ausrenkbare Daumen, seitliche Abweichung der zweiten Zehen mit Anhebung der ersten Zehen) gekennzeichnet ist. Seit 1989 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Braquidactilia tipo A7","synonyms":["Braquidactilia tipo Smorgasbord"],"definition":"Es una disostosis poco frecuente con braquidactilia caracterizada por una combinación variable de hallazgos asociados a la braquidactilia tipo A2 (como falange media del primer o del segundo dedo del pie en delta), tipo D (falange distal del pulgar corta y ancha) y a otros tipos de braquidactilia (sinfalangismo), así como por otros hallazgos característicos (luxación de pulgares, desviación lateral del segundo dedo del pie con elevación del primero). No ha habido más casos descritos en la literatura desde 1989."},"it":{"name":"Brachidattilia, tipo A7","synonyms":["Brachidattilia, tipo Smorgasbord"],"definition":"Si tratta di una disostosi rara con brachidattilia, caratterizzata dai segni clinici peculiari della brachidattilia tipo A2 (falange media del secondo dito della mano o del piede a forma di delta), e tipo D (falange distale del pollice corta e larga) e di altri tipi di brachidattilia (sinfalangismo), associati a segni clinici unici (pollice dislocabile, deviazione laterale del secondo dito del piede con elevazione del primo dito). Non sono stati descritti nuovi casi dopo il 1989."},"nl":{"name":"Brachydactylie type A7","synonyms":["Brachydactylie, Smorgasbord-type"],"definition":"Een zeldzame dysostose met brachydactylie, gekenmerkt door variabele combinaties van kenmerken van brachydactylie types A2 (zoals driehoekige middelste falanx van tweede vinger of teen) en D (korte, brede distale falanx van duim) en andere types van brachydactylie (symfalangisme), alsook unieke kenmerken (luxeerbare duimen, laterale deviatie van tweede tenen met elevatie van eerste tenen). Sinds 1989 verschenen er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Braquidactilia tipo A7","definition":"A braquidactilia tipo A7 (tipo Smorgasbord) é uma forma de braquidactilia que se apresenta com as características de braquidactilia tipo A2 (encurtamento das falanges médias do dedo indicativo e, por vezes, do dedo mínimo) e tipo D (encurtamento da falange distal do polegar), além de outras manifestações adicionais."},"pl":{"name":"Brachydaktylia typu A7","synonyms":["Brachydaktylia, typ Smorgasborda"]},"cs":{"name":"Brachydaktylie, typ A7","synonyms":["Brachydaktylie, typ smorgasbord"]},"uk":{"name":"Брахідактилія, тип А7","synonyms":["Брахідактилія за типом шведського столу"],"definition":"A rare dysostosis with brachydactyly characterized by variable combinations of features of brachydactyly types A2 (such as delta-shaped middle phalanx of the second finger or toe) and D (short, broad distal phalanx of the thumb) and other types of brachydactyly (symphalangism), as well as unique features (dislocatable thumbs, lateral deviation of second toes with elevation of first toes). There have been no further descriptions in the literature since 1989."},"zh":{"name":"短指（趾）畸形A7型","synonyms":["短指（趾）畸形，Smorgasbord型"],"definition":"短指/趾畸形A7型（Smorgasbord型）是短指/趾畸形的一种类型，具有短指畸形A2型（食指中指骨缩短，有时为小指受累）和短指畸形D型（拇指远端指骨缩短）的特征以及各种附加特征。"},"tr":{"name":"Brakidaktili tip A7","synonyms":["Brakidaktili, Smorgasbord tipi"]}},"xrefs":[{"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":"1487696553"},{"source":"MONDO","code":"0019679","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303991","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"984","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":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"2714013[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2714013[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-10","source":"2714013[PMID]","terms":[{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009843","label":"Aplasia/Hypoplasia of the middle phalanges of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010109","label":"Short hallux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009576","label":"Absent middle phalanx of 2nd finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009642","label":"Broad distal phalanx of the thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010348","label":"Broad phalanges of the 2nd toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009700","label":"Finger symphalangism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008096","label":"Medially deviated second toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009467","label":"Radial deviation of the 2nd finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009536","label":"Short 2nd finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100394","label":"Short middle phalanx of the 5th toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009523","label":"Triangular epiphysis of the middle phalanx of the 2nd finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009464","label":"Ulnar deviation of the 2nd finger","frequency":"Occasional (29-5%)","criteria":null}]}}