{"orpha":2234,"name":"Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Sohval-Soffer syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, hypergonadotropic hypogonadism, germinal aplasia or complete tubular fibrosis, aspermatogenesis, gynecomastia, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus. There have been no further descriptions in the literature since 1953.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2234/","orphanet_url":"https://www.orpha.net/en/disease/detail/2234","names":{"fr":{"name":"Syndrome d'hypogonadisme hypergonadotrope masculin-déficience intellectuelle-anomalies squelettiques","synonyms":["Syndrome de Sohval-Soffer"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique, caractérisé par une déficience intellectuelle, un hypogonadisme hypergonadotrope, une aplasie germinale ou une fibrose tubulaire complète, une aspermatogenèse, une gynécomastie, des anomalies squelettiques congénitales touchant la colonne cervicale et les côtes supérieures, ainsi qu'un diabète sucré. Aucun nouveau cas n'a été décrit dans la littérature depuis 1953."},"de":{"name":"Männlicher Hypogonadismus-Intelligenzminderung-Skelettanomalien-Syndrom","synonyms":["Sohval-Soffer-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch hypergonadotropen Hypogonadismus, intellektuelles Defizit, kongenitale Skelettanomalien der Wirbelsäule und der oberen Rippen und durch Diabetes mellitus."},"es":{"name":"Síndrome de hipogonadismo hipergonadotrópico masculino-discapacidad intelectual-anomalías esqueléticas","synonyms":["Síndrome de Sohval-Soffer"],"definition":"Este síndrome se caracteriza por hipogonadismo hipergonadotrópico, déficit intelectual, diabetes mellitus y anomalías esqueléticas congénitas en la columna cervical y las costillas superiores."},"it":{"name":"Sindrome ipogonadismo ipergonadotropo maschile-disabilità intellettiva-anomalie scheletriche","synonyms":["Sindrome di Sohval-Soffer"]},"nl":{"name":"Mannelijk hypergonadotroop hypogonadisme - intellectuele achterstand - skeletanomalieën-syndroom","synonyms":["Syndroom van Sohval-Soffer"],"definition":"Een syndroom, gekenmerkt door hypergonadotroop hypogonadisme, intellectuele achterstand, congenitale skeletanomalieën van cervicale wervelkolom en bovenste ribben, en diabetes mellitus."},"pt":{"name":"Síndrome de hipogonadismo hipergonadotrópico masculino-perturbação do desenvolvimento intelectual-anomalias esqueléticas","synonyms":["Síndrome Sohval-Soffer"],"definition":"Esta síndrome é caracterizada por hipogonadismo hipertrófico, atraso mental, anomalias congénitas esqueléticas envolvendo a coluna cervical e as costelas superiores, e diabetes mellitus."},"pl":{"name":"Męski hipogonadyzm hipergonadotropowy - niepełnosprawność intelektualna - wady szkieletowe","synonyms":["Zespół Sohval i Soffer"]},"cs":{"name":"Syndrom zahrnující mužský hypergonadotropní hypogonadismus, mentální retardaci a kosterní anomálie","synonyms":["Sohvalův-Sofferův syndrom","Sohval-Sofferův syndrom"]},"uk":{"name":"Синдром чоловічого гіпергонадотропного гіпогонадизму - інтелектуальної недостатності - скелетних аномалій","synonyms":["Синдром Сохваль-Соффера"],"definition":"This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus."},"zh":{"name":"男性高促性腺激素性性腺功能减退-智力障碍-骨骼异常综合征","synonyms":["Sohval-Soffer 综合征"]},"tr":{"name":"Erkek hipergonadotropik hipogonadizm-zihinsel yetersizlik-iskelet anomalileri sendromu","synonyms":["Sohval-Soffer sendromu"]}},"xrefs":[{"source":"OMIM","code":"307500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010617","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536679","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931285","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4899","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":181441,"name":"Rare disorder with hypergonadotropic hypogonadism","classifications":[156,193,201]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"13030490[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_13030490[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-16","source":null,"terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003782","label":"Eunuchoid habitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100745","label":"Abnormality of the humeroulnar joint","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000820","label":"Abnormality of the thyroid gland","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Frequent (79-30%)","criteria":null}]}}