{"orpha":71271,"name":"Split hand-split foot-deafness syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Split hand-split foot-hearing loss syndrome"],"definition":"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-71271/","orphanet_url":"https://www.orpha.net/en/disease/detail/71271","names":{"fr":{"name":"Syndrome de mains et pieds fendus-surdité","definition":"Syndrome génétique extrêmement rare rapporté à ce jour dans quelques familles et caractérisé cliniquement par une malformation à type de mains et de pieds fendus et une perte auditive neurosensorielle légère à modérée, parfois associée à une fente palatine et à une déficience intellectuelle."},"de":{"name":"Spalthand - Spaltfuß - Schwerhörigkeit","definition":"Spalthand - Spaltfuß - Schwerhörigkeit ist ein extrem seltenes, bisher nur in wenigen Familien beschriebenes genetisches Syndrom und klinisch gekennzeichnet durch Spalthand-/Spaltfuß-Fehlbildung (SHFM; s. dort) und leichte bis moderate Schallempfindungsschwerhörigkeit, manchmal in Verbindung mit Gaumenspalte und intellektuellem Defizit."},"es":{"name":"Síndrome de mano hendida-pie hendido-sordera","synonyms":["Síndrome de mano hendida-pie hendido-hipoacusia"],"definition":"El síndrome mano y pie hendidos - sordera es un síndrome genético extremadamente poco frecuente, descrito en pocas familias hasta la fecha, que se caracteriza clínicamente por malformaciones mano hendida / pie hendido (SHFM; consulte este término) y pérdida de audición neurosensorial de leve a moderada, a veces asociada con paladar hendido y déficit intelectual."},"it":{"name":"Mani e piedi a chela - sordità","definition":"L'ectrodattilia delle mani e dei piedi - sordità è una sindrome genetica estremamente rara descritta finora in poche famiglie, caratterizzata da malformazione delle mani e dei piedi a ''chela'' (SHFM; si veda questo termine) e moderata sordità neurosensoriale, associata talvolta a palatoschisi e deficit cognitivo."},"nl":{"name":"Gespleten hand - gespleten voet - doofheid-syndroom","synonyms":["Gespleten hand - gespleten voet - gehoorverlies-syndroom"],"definition":"Een uiterst zeldzaam genetisch syndroom, tot op heden gerapporteerd bij enkele families, en klinisch gekenmerkt door gespleten hand/gespleten voet-malformatie (SHFM) en mild tot matig sensorineuraal gehoorverlies, soms geassocieerd met gespleten gehemelte en intellectuele achterstand."},"pt":{"name":"Síndrome de mão fendida-pé fendido-surdez","synonyms":["Ectrodactilia de mãos e pés-surdez"]},"pl":{"name":"Rozszczep ręki - rozszczep stopy - głuchota","synonyms":["Split hand-split foot-hearing loss syndrome"]},"cs":{"name":"Syndrom zahrnující ektrodaktylii a hluchotu","synonyms":["Split hand-split foot-hearing loss syndrome"]},"uk":{"name":"Синдром розщепленої кисті-розщепленої стопи-глухоти","synonyms":["Синдром розщепленої руки-розщепленої ноги- втрати слуху"],"definition":"Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit."},"zh":{"name":"分裂手-分裂足-耳聋综合征","synonyms":["裂手-裂足-听力丧失综合征"]},"tr":{"name":"Yarık el-yarık ayak-sağırlık sendromu","synonyms":["Ayrık el-ayrık ayak işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"220600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1085049656"},{"source":"MONDO","code":"0009080","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565647","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857344","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[{"symbol":"DLX5","name":"distal-less homeobox 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22121204[PMID]","hgnc":"2918","ensembl":"ENSG00000105880","omim":"600028","loci":["7q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}