{"orpha":3341,"name":"Torticollis-keloids-cryptorchidism-renal dysplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3341/","orphanet_url":"https://www.orpha.net/en/disease/detail/3341","names":{"fr":{"name":"Syndrome de torticolis-chéloïdes-cryptorchidie","definition":"Syndrome malformatif rare dû à un défaut de développement au cours de l'embryogenèse, caractérisé par un torticolis musculaire congénital associé à des anomalies cutanées (chéloïdes multiples, naevus pigmentés, épithélioma), à des malformations urogénitales (cryptorchidie et hypospadias) et à une dysplasie rénale (pyélonéphrite chronique, atrophie rénale). Des cas de varices, de déficience intellectuelle et d'anomalies musculosquelettiques ont par ailleurs été décrits."},"de":{"name":"Torticollis-Keloide-Kryptoorchidie-Nierendysplasie-Syndrom","synonyms":["Torticollis - Keloid - Kryptoorchidie - Nierendysplasie"]},"es":{"name":"Síndrome de tortícolis-queloides-criptorquidia-displasia renal","definition":"Es un síndrome muy poco frecuente por defectos del desarrollo embrionario. Está caracterizado por tortícolis muscular congénita asociada a anomalías cutáneas (tales como múltiples queloides, nevos pigmentados, epitelioma), malformaciones urogenitales (que incluyen criptorquidia e hipospadias) y displasia renal (p. ej., pielonefritis crónica, atrofia renal). Otras características adicionales descritas incluyen venas varicosas, discapacidad intelectual y anomalías musculoesqueléticas."},"it":{"name":"Sindrome da torcicollo, cheliodi, criptorchidismo e displasia renale","definition":"La sindrome che associa torcicollo, cheloidi, criptorchidismo e displasia renale è una malattia malformativa rara, di origine genetica, causata da un difetto di sviluppo dell'embrione. È caratterizzata da torcicollo muscolare congenito associato ad anomalie della cute (cheloidi multipli, nevi pigmentati, epiteliomi), malformazioni urogenitali (criptorchidismo, ipospadia) e displasia renale (ad esempio pielonefrite cronica ed atrofia renale). Altri segni clinici sono le vene varicose, la disabilità intellettiva e le anomalie muscoloscheletriche."},"nl":{"name":"Torticollis - keloïden - cryptorchidie - renale dysplasie-syndroom","definition":"Torticollis - keloïden - cryptorchidie - renale dysplasie-syndroom is een uiterst zeldzaam malformatiesyndroom door een ontwikkelingsdefect tijdens de embryogenese, en wordt gekarakteriseerd door congenitale musculaire torticollis geassocieerd met huidanomalieën (zoals meervoudige keloïden, gepigmenteerde naevi, epithelioom), urogenitale malformaties (waaronder cryptorchisme en hypospadieën) en nierdysplasie (e.g. chronische pyelonefritis, nieratrofie). Bijkomende kenmerken die weren gerapporteerd, zijn onder meer spataders, intellectuele achterstand en musculoskeletale anomalieën."},"pt":{"name":"Síndrome de torcicolo-quelóides-criptorquidia-displasia renal"},"pl":{"name":"Zespół kręczu szyi, bliznowców, wnętrostwa i dysplazji nerek","definition":"*Zespół kręczu szyi, bliznowców, wnętrostwa i dysplazji nerek jest niezwykle rzadką wadą rozwojową powstałą podczas embriogenezy, która charakteryzuje się wrodzonym kręczem mięśni szyi z towarzyszącymi anomaliami skórnymi (takimi jak liczne bliznowce, znamiona barwnikowe, nabłoniaki), wadami rozwojowymi układu moczowo-płciowego (w tym wnętrostwem i spodziectwem) oraz dysplazją nerek (np. przewlekłe odmiedniczkowe zapalenie nerek, atrofia nerek). Dodatkowo opisywano żylaki, niepełnosprawność intelektualną i wady mięśniowo-szkieletowe."},"cs":{"name":"Syndrom zahrnující torticollis, keloidy, kryptorchismus a renální dysplázii"},"uk":{"name":"Синдром кривошиї - келоїдів - крипторхізму - дисплазії нирок","definition":"Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies."},"zh":{"name":"斜颈-瘢痕疙瘩-隐睾-肾发育不良综合征"},"tr":{"name":"Tortikolis-keloidler-kriptorşidizm-renal displazi sendromu"}},"xrefs":[{"source":"OMIM","code":"314300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010748","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536970","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749808","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5230","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"12725596[PMID]_4387470[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12725596[PMID]_4387470[PMID]"}],"phenotypes":null}