{"orpha":3250,"name":"Proximal symphalangism","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Symphalangism, Cushing type"],"definition":"A rare genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3250/","orphanet_url":"https://www.orpha.net/en/disease/detail/3250","names":{"fr":{"name":"Symphalangie proximale","synonyms":["Symphalangie type Cushing"],"definition":"Maladie osseuse rare d'origine génétique caractérisée par une ankylose des articulations interphalangiennes proximales, une fusion des os du carpe et du tarse et une surdité de transmission chez certains patients."},"de":{"name":"Symphalangismus, proximaler","synonyms":["Cushing-Symphalangie"],"definition":"Eine seltene genetisch bedingte Knochenkrankheit, die durch eine Ankylose der proximalen Interphalangealgelenke, eine Fusion der Handwurzel- und Fußwurzelknochen und bei einigen Patienten durch eine Schalleitungs-Schwerhörigkeit als Folge einer Fusion der Gehörknöchelchen gekennzeichnet ist."},"es":{"name":"Sinfalangismo proximal","synonyms":["Sinfalangismo familiar proximal","Sinfalangismo tipo Cushing"],"definition":"Es un trastorno óseo de origen genético poco frecuente caracterizado por anquilosis de las articulaciones interfalángicas proximales y fusión ósea del carpo y el tarso, asociado a hipoacusia conductiva en algunos pacientes."},"it":{"name":"Sinfalangismo prossimale","synonyms":["Sinfalangismo familiare prossimale","Sinfalangismo, tipo Cushing"],"definition":"Il sinfalangismo prossimale è una patologia molto rara dello scheletro, di origine genetica, caratterizzata da anchilosi delle articolazioni interfalangee prossimali, fusione delle ossa del carpo e del tarso e, in alcuni pazienti, sordità di conduzione."},"nl":{"name":"Proximaal symfalangisme","synonyms":["Symfalangisme, Cushing-type"],"definition":"Een zeldzame genetische aandoening van bot, gekenmerkt door ankylose van proximale interfalangeale gewrichten, fusie van handwortelbeentjes en voetwortelbeentjes, en conductief gehoorverlies bij sommige patiënten."},"pt":{"name":"Sinfalangia proximal","synonyms":["Sinfalangia, tipo Cushing"]},"pl":{"name":"Symfalangizm proksymalny","synonyms":["Symfalangizm, typu Cushinga"],"definition":"Rzadka, genetycznie uwarunkowana choroba kości charakteryzująca się zesztywnieniem bliższych stawów międzypaliczkowych, zrośnięciem kości nadgarstka i stępu oraz u niektórych pacjentów przewodzeniowym niedosłuchem."},"cs":{"name":"Proximální symfalangismus","synonyms":["Symfalangismus, Cushingův typ"]},"uk":{"name":"Проксимальний симфалангізм","synonyms":["Симфалангізм, тип Кушинга"],"definition":"A rare genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients."},"zh":{"name":"近端指关节粘连","synonyms":["指（趾）关节粘连，Cushing型"]},"tr":{"name":"Proksimal simfalanjizm","synonyms":["Symphalangism, Cushing tipi"]}},"xrefs":[{"source":"OMIM","code":"185800","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"615298","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q70.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"49802338"},{"source":"MONDO","code":"0008511","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536223","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861385","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8182","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294949,"name":"Non-syndromic joint formation defects","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"GDF5","name":"growth differentiation factor 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"18283415[PMID]_16892395[PMID]","hgnc":"4220","ensembl":"ENSG00000125965","omim":"601146","loci":["20q11.22"]},{"symbol":"NOG","name":"noggin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11846737[PMID]_24326127[PMID]","hgnc":"7866","ensembl":"ENSG00000183691","omim":"602991","loci":["17q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100264","label":"Proximal symphalangism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003070","label":"Elbow ankylosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040019","label":"Finger clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005880","label":"Metacarpophalangeal synostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}