{"orpha":2825,"name":"PARC syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Poikiloderma-alopecia-retrognathism-cleft palate syndrome"],"definition":"PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2825/","orphanet_url":"https://www.orpha.net/en/disease/detail/2825","names":{"fr":{"name":"Syndrome PARC","synonyms":["Syndrome de poïkilodermie-alopécie-rétrognathie-fente palatine"],"definition":"Anomalie rare du développement embryonnaire d'origine génétique caractérisée par l'association d'une poïkilodermie congénitale (P), d'une alopécie généralisée (A), d'un rétrognathisme (R) et d'une fente palatine (C). Aucun cas n'a été décrit dans la littérature depuis 1990."},"de":{"name":"PARC-Syndrom","synonyms":["Poikilodermie, Alopezie, Retrognathie, Gaumenspalte"]},"es":{"name":"Síndrome PARC","synonyms":["Síndrome de poiquilodermia-alopecia-retrognatia-paladar hendido"],"definition":"Es un síndrome por defecto del desarrollo embrionario, genético y poco frecuente, caracterizado por la asociación de poiquilodermia congénita, alopecia generalizada, retrognatismo y paladar hendido. No se han descrito más casos en la literatura desde 1990."},"it":{"name":"Sindrome PARC","synonyms":["Poichilodermia - alopecia - retrognazia - palatoschisi"],"definition":"La sindrome PARC è un difetto genetico raro dello sviluppo dell'embrione, caratterizzato dalla associazione tra poichilodermia congenita, alopecia generalizzata, retrognazia e palatoschisi (acronimo inglese: PARC). Non sono stati descritti nuovi casi dopo il 1990"},"nl":{"name":"PARC-syndroom","synonyms":["Poikilodermie - alopecie - retrognathie - gespleten verhemelte-syndroom"],"definition":"PARC-syndroom is een zeldzaam, genetisch syndroom met een ontwikkelingsdefect tijdens de embryogenese, en wordt gekarakteriseerd door de associatie van congenitale poikilodermie (P), gegeneraliseerde alopecie (A), retrognathie (R) en gespleten verhemelte (C). Sinds 1990 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome PARC","synonyms":["Síndrome de poiquilodermia-alopecia-retrognatia-fenda palatina"]},"pl":{"name":"Zespół PARC","synonyms":["Poikilodermia - łysienie - retrognatyzm - rozszczep podniebienia"],"definition":"*Zespół PARC jest rzadką, genetycznie uwarunkowaną wadą rozwojową powstałą podczas embriogenezy, która charakteryzuje się asocjacją wrodzonej poikilodermii (siateczkowata pigmentacja skóry) (P), uogólnionego łysienia (A), retrognatyzmu (cofnięta żuchwa) (R) i rozszczepu podniebienia (C). Od 1990 r. nie ma w literaturze nowych opisów."},"cs":{"name":"PARC syndrom","synonyms":["Syndrom zahrnující poikilodermii, alopecii, retrognatii a rozštěp patra"]},"uk":{"name":"Синдром PARC","synonyms":["Синдром пойкилодермії - алопеції - ретрогнатії - розщілини піднебіння"],"definition":"PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990."},"zh":{"name":"PARC综合征","synonyms":["皮肤异色-脱发-下颌后缩-腭裂综合征"]},"tr":{"name":"PARC sendromu","synonyms":["Poikiloderma-alopesi-retrognatizm-yarık damak sendromu"]}},"xrefs":[{"source":"OMIM","code":"600331","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010867","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537174","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838256","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4223","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":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2242783[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2242783[PMID]"}],"phenotypes":null}