{"orpha":2946,"name":"Brachydactyly-long thumb syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Brachydactyly, long thumb type"],"definition":"A rare heart-hand syndrome characterized by bisymmetric brachydactyly accompanied by long thumbs and cardiomegaly. Cardiac conduction defects may also be present. Additional clinical features include limited internal and external rotation of the shoulders (that are usually narrow with short clavicles) and limited flexion of the metacarpophalangeal joints. Mild shortness of the limbs, small hands and feet, clinodactyly, pectus excavatum and murmur of pulmonic stenosis have also been reported. There have been no further descriptions in the literature since 1981.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2946/","orphanet_url":"https://www.orpha.net/en/disease/detail/2946","names":{"fr":{"name":"Syndrome de pouce long-brachydactylie","definition":"Syndrome cardiomélique rare caractérisé par une brachydactylie bisymétrique accompagnée de pouces longs et d'une cardiomégalie. Des troubles de la conduction cardiaque peuvent également être présents. Les autres signes cliniques sont une limitation de la rotation interne et externe des épaules (qui sont généralement étroites avec des clavicules courtes) et un blocage de la flexion des articulations métacarpophalangiennes. Les membres légèrement raccourcis, les mains et les pieds de petite taille, une clinodactylie, un pectus excavatum et un souffle de sténose pulmonaire ont également été rapportés. Aucun nouveau cas n'a été décrit dans la littérature depuis 1981."},"de":{"name":"Syndrom der Brachydaktylie mit langem Daumen","definition":"Das Brachydaktylie-langer Daumen-Syndrom ist ein sehr seltenes Herz-Hand-Syndrom. Es ist gekennzeichnet durch bi-symmetrische Brachydaktylie in Verbindung mit langen Daumen, Gelenkanomalien (eingeschränkte Beweglichkeit der Schulter- und Metakarpo-Phalangeal-Gelenke) und kardialen Reizleitungsstörungen. Weitere Symptome sind: kleine Hände und Füße, Klinodaktylie, enge Schulter mit kurzem Schlüsselbein, Pectus excavatum, leicht verkürzte Gliedmaßen, Kardiomegalie und Herzgeräusch durch Pulmonalstenose. Seit 1981 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de braquidactilia-pulgar largo","definition":"Es un síndrome corazón-mano poco frecuente caracterizado por braquidactilia bilateral acompañada de pulgares largos y cardiomegalia. También puede asociar defectos de la conducción cardíaca. Otras características clínicas incluyen limitaciones de la rotación interna/externa de los hombros (que suelen ser estrechos con clavículas cortas) y de flexión de las articulaciones metacarpofalángicas. También se ha descrito acortamiento de las extremidades, manos y pies pequeños, clinodactilia, tórax en embudo y soplo de estenosis pulmonar. No se han publicado más casos en la literatura desde 1981."},"it":{"name":"Pollice lungo - brachidattilia","definition":"La sindrome brachidattilia-pollice lungo è una forma molto rara, autosomica dominante, della sindrome cuore-mano (si veda questo termine); è caratterizzata da brachidattilia bisimmetrica associata a pollici lunghi, anomalie delle articolazioni (limitazione del movimento della spalla e delle articolazioni metacarpo-falangee) e difetti della conduzione cardiaca. Altri segni comprendono le mani ed i piedi piccoli, la clinodattilia, le spalle strette con clavicole corte, il <i>pectus excavatum</i> e un lieve accorciamento degli arti, la cardiomegalia ed il soffio cardiaco da stenosi polmonare."},"nl":{"name":"Brachydactylie - lange duim","definition":"Een zeldzaam hart-handsyndroom, gekenmerkt door dubbel symmetrische brachydactylie vergezeld van lange duimen en cardiomegalie. Hartgeleidingsdefecten kunnen ook aanwezig zijn. Bijkomende klinische kenmerken zijn onder meer beperkte rotatie naar binnen en naar buiten van de schouders (die meestal smal zijn met korte sleutelbeenderen) en beperkte flexie van de metacarpofalangeale gewrichten. Mild lengtedefect van de ledematen, kleine handen en voeten, clinodactylie, pectus excavatum (trechterborst) en geruis van pulmonalisklepstenose werden ook reeds gerapporteerd. Sinds 1981 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de braquidactilia-polegar longo"},"pl":{"name":"Brachydaktylia - długi kciuk","synonyms":["Brachydaktylia - długi kciuk, typu długiego kciuka"]},"cs":{"name":"Syndrom zahrnující brachydaktylii a dlouhý palec na ruce","synonyms":["Brachydaktylie, typ s dlouhým palcem na ruce"]},"uk":{"name":"Синдром брахідактилії довгого великого пальця","synonyms":["Брахідактилія, довгий тип великого пальця"],"definition":"A rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. There have been no new reports since 1981."},"zh":{"name":"短指(趾)畸形-长拇指综合征","synonyms":["短指（趾）畸形，长拇指型"]},"tr":{"name":"Brakidaktili-uzun başparmak sendromu","synonyms":["Brakidaktili, uzun başparmak tipi"]}},"xrefs":[{"source":"OMIM","code":"112430","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1621041627"},{"source":"MONDO","code":"0007212","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566204","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862169","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"968","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498454,"name":"Dysostosis with brachydactyly with extraskeletal manifestations","classifications":[147,156,199]},{"orpha":101934,"name":"Genetic cardiac rhythm disease","classifications":[146,156]},{"orpha":228184,"name":"Heart-hand syndrome","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"7246605[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7246605[PMID]"}],"phenotypes":null}