{"orpha":2353,"name":"Schilbach-Rott syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BRSS","Hypotelorism-cleft palate-hypospadias syndrome"],"definition":"Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2353/","orphanet_url":"https://www.orpha.net/en/disease/detail/2353","names":{"fr":{"name":"Syndrome de Schilbach-Rott","synonyms":["Syndrome d'hypotélorisme-fente palatine-hypospadias"],"definition":"Le syndrome de Schilbach-Rott (SRS) est un trouble dysmorphique à transmission autosomique dominante. Il se caractérise par une dysmorphie faciale (hypotélorisme, blépharophimosis, fente palatine), et une fréquente occurrence d'hypospadias chez les hommes."},"de":{"name":"Schilbach-Rott-Syndrom","synonyms":["BRSS","Hypotelorismus - Gaumenspalte - Hypospadie"],"definition":"Das Schilbach-Rott-Syndrom (SRS) ist eine autosomal-dominant vererbte Krankheit mit fazialen Dysmorphien (Hypertelorismus, Blepharophimise), Gaumenspalte und häufig bestehender Hypospadie im männlichen Geschlecht"},"es":{"name":"Síndrome de Schilbach-Rott","synonyms":["BRSS","Síndrome de hipotelorismo-paladar hendido-hipospadias"],"definition":"El síndrome de Schilbach-Rott (SRS) es un trastorno dismórfico autosómico dominante que se caracteriza por facies dismórfica con hipertelorismo, blefarofimosis y paladar hendido, y la presencia frecuente de hipospadias en varones."},"it":{"name":"Sindrome di Schilbach-Rott","synonyms":["BRSS","Ipotelorismo - palatoschisi - ipospadia"],"definition":"La sindrome di Schilbach-Rott (SRS) è una sindrome dismorfica autosomica dominante caratterizzata da facies dismorfica con ipotelorismo, blefarofimosi e palatoschisi e frequente ipospadia nei maschi."},"nl":{"name":"Syndroom van Schilbach-Rott","synonyms":["BRSS","Hypotelorisme - gespleten verhemelte - hypospadie-syndroom"],"definition":"Schilbach-Rottsyndroom (SRS) is een autosomaal dominante aandoening met dysmorfie, die gekenmerkt wordt door een dysmorf gelaat met hypotelorisme, blefarofimose en een gespleten gehemelte en het veelvuldig voorkomen van hypospadie bij mannen."},"pt":{"name":"Síndrome Schilbach-Rott","synonyms":["Síndrome de hipotelorismo-fenda palatina-hipospadias"],"definition":"A síndrome de Schilbach-Rott (SRS) é uma doença autossómica dominante caracterizada por dismorfismo facial com hipotelorismo, blefarofimose, fenda palatina, e a ocorrência frequente de hipospádia no sexo masculino."},"pl":{"name":"Zespół Schilbacha i Rotta","synonyms":["BRSS","Hipoteloryzm - rozszczep podniebienia - spodziectwo"]},"cs":{"name":"Schilbachův-Rottův syndrom","synonyms":["BRSS","Syndrom zahrnující hypotelorismus, rozštěp patra a hypospadii","Schilbach-Rottův syndrom"]},"uk":{"name":"Синдром Шильбаха-Ротта","synonyms":["BRSS","Синдром гіпотелоризму-розщілини піднебіння-гіпоспадії"],"definition":"Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males."},"zh":{"name":"Schilbach-Rott综合征","synonyms":["眼距过短-腭裂-尿道下裂综合征"]},"tr":{"name":"Schilbach-Rott sendromu","synonyms":["BRSS","Hipotelorizm-yarık damak-hipospadias sendromu"]}},"xrefs":[{"source":"OMIM","code":"164220","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1481992489"},{"source":"MONDO","code":"0008113","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563509","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1834038","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2930","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1251,"name":"Blepharofacioskeletal syndrome","status":"inactive"}],"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":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[{"symbol":"PTCH1","name":"patched 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"30936464[PMID]","hgnc":"9585","ensembl":"ENSG00000185920","omim":"601309","loci":["9q22.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"19921646[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19921646[PMID]"}],"phenotypes":null}