{"orpha":2261,"name":"Hypospadias-intellectual disability, Goldblatt type syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Goldblatt-Wallis syndrome"],"definition":"A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2261/","orphanet_url":"https://www.orpha.net/en/disease/detail/2261","names":{"fr":{"name":"Syndrome d'hypospadias-déficience intellectuelle type Goldblatt","synonyms":["Syndrome de Goldblatt-Wallis"],"definition":"Anomalies congénitales multiples/syndrome très rare décrit chez trois frères d'une famille sud-africaine, et caractérisée par un hypospadias et une déficience intellectuelle, en association avec une microcéphalie, une dysmorphie cranio-faciale, une laxité articulaire et des ongles en bec de perroquet."},"de":{"name":"Hypospadie mit Intelligenzminderung Typ Goldblatt","synonyms":["Goldblatt-Wallis-Syndrom"],"definition":"Ein sehr seltenes Syndrom mit multiplen angeborenen Anomalien, das bei drei Brüdern einer südafrikanischen Familie beschrieben wurde und durch Hypospadie und intellektuelles Defizit in Verbindung mit Mikrozephalie, kraniofazialer Dysmorphie, Gelenkhypermobilität und gekrümmten Nägeln gekennzeichnet ist."},"es":{"name":"Síndrome de hipospadias-discapacidad intelectual tipo Goldblatt","synonyms":["Síndrome de Goldblatt-Wallis"],"definition":"Es un síndrome de anomalías congénitas múltiples muy poco frecuente, descrito en tres hermanos de una familia de Sudáfrica, y que se caracteriza por hipospadias y déficit intelectual, en asociación con microcefalia, dismorfismo craneofacial, laxitud articular y uñas picudas."},"it":{"name":"Ipospadia - disabilità intellettiva, tipo Goldblatt","synonyms":["Sindrome di Goldblatt-Wallis"],"definition":"L'ipospadia - deficit cognitivo tipo Goldblatt è una sindrome molto rara da anomalie congenite multiple descritta in tre fratelli di una famiglia del Sud Africa; è caratterizzata da ipospadia e deficit cognitivo, in associazione a microcefalia, dismorfismi craniofacciali, lassità articolare e unghie appuntite."},"nl":{"name":"Hypospadie - intellectuele achterstand-syndroom, Goldblatt-type","synonyms":["Syndroom van Goldblatt-Wallis"],"definition":"Een zeer zeldzaam syndroom met multipele congenitale anomalieën, beschreven bij drie broers van één Zuid-Afrikaanse familie, en gekenmerkt door hypospadie en intellectuele achterstand, geassocieerd met microcefalie, craniofaciale dysmorfie, gewrichtslaxiteit, en snavelvormige nagels."},"pt":{"name":"Síndrome de hipospadias-perturbação do desenvolvimento intelectual, tipo Goldblatt","synonyms":["Síndrome Goldblatt-Wallis"]},"pl":{"name":"Spodziectwo - niepełnosprawność intelektualna typu Goldblatta","synonyms":["Zespół Goldblatta i Wallisa"]},"cs":{"name":"Syndrom zahrnující hypospadii a mentální retardaci, Goldblattův typ","synonyms":["Goldblattův-Wallisův syndrom","Goldblatt-Wallisův syndrom"]},"uk":{"name":"Гіпоспадія - інтелектуальна недостатність, синдром Голдблатта","synonyms":["Синдром Гольдблатта-Уолліса"],"definition":"A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails."},"zh":{"name":"小儿尿道下裂-智力障碍Goldblatt型综合征","synonyms":["Goldblatt-Wallis 综合征"]},"tr":{"name":"Hipospadias-zihinsel yetersizlik, Goldblatt tipi sendrom","synonyms":["Goldblatt-Wallis sendromu"]}},"xrefs":[{"source":"OMIM","code":"241760","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009435","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274844","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2928","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"3673966[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3673966[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null}]}}