{"orpha":2947,"name":"Triphalangeal thumbs-brachyectrodactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Carnevale-Hernández-del Castillo-Torres syndrome"],"definition":"A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2947/","orphanet_url":"https://www.orpha.net/en/disease/detail/2947","names":{"fr":{"name":"Syndrome de pouce triphalangé-brachyectrodactylie","synonyms":["Syndrome de Carnevale-Hernández-del Castillo-Torres"],"definition":"Syndrome génétique rare avec duplication des membres, polydactylie, syndactylie et/ou hyperphalangie, caractérisé par des anomalies de duplication, telles que des pouces triphalangés, une duplication des phalanges des autres doigts et une polydactylie, associées à des signes très inconstants d'éctrodactylie, de brachydactylie et de syndactylie des mains et/ou des pieds. Des cas sévères de dysplasie, voire d'absence, des ongles sont également rapportés."},"de":{"name":"Triphalangeale Daumen-Brachyektrodaktylie-Syndrom","synonyms":["Carnevale-Hernández-del Castillo-Torres-Syndrom"],"definition":"Ein seltenes genetisches Syndrom mit Duplikation der Gliedmaßen, Polydaktylie, Syndaktylie und/oder Hyperphalangie, das durch Duplikationsanomalien wie triphalangeale Daumen, phalangeale Duplikation anderer Ziffern und Polydaktylie gekennzeichnet ist, verbunden mit sehr variablen Kombinationen von Ektrodaktylie, Brachydaktylie und Syndaktylie der Hände und/oder Füße. Schwere Nageldysplasie oder das Fehlen von Nägeln wird ebenfalls beobachtet."},"es":{"name":"Síndrome del pulgar trifalángico-braquiectrodactilia","synonyms":["Síndrome de Carnevale-Hernández-del Castillo-Torres"],"definition":"Es un síndrome de origen genético poco frecuente con duplicación de extremidades, polidactilia, sindactilia y/o hiperfalangia caracterizado por anomalías de duplicación tales como pulgares trifalángicos, duplicación de las falanges de otros dedos de las manos y polidactilia, asociado a combinaciones muy variables de ectrodactilia, braquidactilia y sindactilia de manos y/o pies. También se observa grave displasia o ausencia ungueal."},"it":{"name":"Sindrome pollice trifalangeo-brachiectrodattilia","synonyms":["Sindrome di Carnevale-Hernandez-del Castillo","Sindrome di Carnevale-Hernandez-del Castillo-Torres","Sindrome di Carnevale-Hernández-del Castillo"],"definition":"Si tratta di una malattia genetica rara con duplicazione degli arti, polidattilia, sindattilia e/o iperfalangia, caratterizzata da anomalie da duplicazione (pollice trifalangeo, duplicazione delle falangi di altre dita e polidattilia), variabilmente associate a ectrodattilia, brachidattilia e sindattilia delle mani e/o dei piedi. I pazienti presentano anche grave displasia o agenesia delle unghie."},"nl":{"name":"Trifalangeale duimen - brachyectrodactylie-syndroom","synonyms":["Syndroom van Carnevale-Hernández-del Castillo-Torres"],"definition":"Een zeldzaam, genetisch syndroom met duplicatie van ledematen, polydactylie, syndactylie, en/of hyperfalangie, gekenmerkt door abnormale duplicaties zoals trifalangeale duimen, duplicatie van falangen van andere vingers/tenen, en polydactylie, geassocieerd met zeer variabele combinaties van ectrodactylie, brachydactylie, en syndactylie van handen en/of voeten. Ernstige dysplasie of afwezigheid van nagels wordt ook waargenomen."},"pt":{"name":"Síndrome de polegares trifalângicos-braquiectrodactilia","synonyms":["Síndrome Carnevale-Hernandez del Castillo-Torres"]},"pl":{"name":"Trójpaliczkowe kciuki - brachyektrodaktylia","synonyms":["Zespół Carnevale'a, Hernandeza i del Castillo","Zespół trójpaliczkowych kciuków i brachyektrodaktylii"]},"cs":{"name":"Syndrom zahrnující tříčlánkové palce na rukou a brachyektrodaktylii","synonyms":["Carnevaleové-Hernándezové-del Castillové syndrom","Carnevale-Hernández-del Castillové syndrom"]},"uk":{"name":"Синдром трифалангової брахіектродактилії великих пальців","synonyms":["Синдром Карневале-Ернандеса-дель-Кастілло-Торреса"],"definition":"A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed."},"zh":{"name":"三指节拇指-短指（趾）缺指（趾）综合征","synonyms":["Carnevale-Hernández-del Castillo综合征"]},"tr":{"name":"Trifalanjiyal başparmak-brakiektrodaktili sendrom","synonyms":["Carnevale-Hernández-del Castillo sendromu"]}},"xrefs":[{"source":"OMIM","code":"190680","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"211583723"},{"source":"MONDO","code":"0008607","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536564","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1860804","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5290","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"7438506[PMID]_3568429[PMID]_8946115[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7438506[PMID]_3568429[PMID]_8946115[PMID]"}],"phenotypes":null}