{"orpha":2183,"name":"Hydrocephalus-obesity-hypogonadism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Sengers-Hamel-Otten syndrome"],"definition":"A rare form of syndromic obesity characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2183/","orphanet_url":"https://www.orpha.net/en/disease/detail/2183","names":{"fr":{"name":"Syndrome d'hydrocéphalie-obésité-hypogonadisme","synonyms":["Syndrome de Sengers-Hamel-Otten"],"definition":"Ce syndrome est caractérisé par l'association d'une hydrocéphalie congénitale, une obésité centripète, un hypogonadisme, un déficit intellectuel et une petite taille."},"de":{"name":"Hydrozephalus-Adipositas-Hypogonadismus-Syndrom","synonyms":["Sengers-Hamel-Otten-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch die Assoziation von angeborenem Hydrozephalus, zentripetaler Adipositas, Hypogonadismus, Intelligenzminderung und Kleinwuchs."},"es":{"name":"Síndrome de hidrocefalia-obesidad-hipogonadismo","synonyms":["Síndrome de Sengers-Hamel-Otten"],"definition":"Este síndrome se caracteriza por la asociación de hidrocefalia congénita, obesidad centrípeta, hipogonadismo, déficit intelectual y estatura baja."},"it":{"name":"Idrocefalo - obesità - ipogonadismo","synonyms":["Sindrome di Sengers-Hamel-Otten"]},"nl":{"name":"Hydrocefalie - obesitas - hypogonadisme-syndroom","synonyms":["Syndroom van Sengers-Hamel-Otten"],"definition":"Een syndroom, gekenmerkt door de associatie van congenitale hydrocefalie, centrale obesitas, hypogonadisme, intellectuele achterstand, en kleine gestalte."},"pt":{"name":"Síndrome de hidrocefalia-obesidade-hipogonadismo","synonyms":["Síndrome Sengers-Hamel-Otten"],"definition":"Esta síndrome é caracterizada pela associação de hidrocéfalo congénito, obesidade centrípeta, hipogonadismo, atraso mental e baixa estatura."},"pl":{"name":"Wodogłowie - otyłość - hipogonadyzm","synonyms":["Zespół Sengersa, Hamela i Ottena"]},"cs":{"name":"Syndrom zahrnující hydrocefalus, obezitu a hypogonadismus","synonyms":["Sengersův-Hamelův-Ottenův syndrom","Sengers-Hamel-Ottenův syndrom"]},"uk":{"name":"Синдром гідроцефалії-ожиріння-гіпогонадизму","synonyms":["Синдром Сенгерса-Гамеля-Оттена"],"definition":"A rare form of syndromic obesity characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature."},"zh":{"name":"脑积水-肥胖-性腺功能减退综合征","synonyms":["Sengers-Hamel-Otten综合征"]},"tr":{"name":"Hidrosefali-obezite-hipogonadizm sendromu","synonyms":["Sengers-Hamel-Otten sendromu"]}},"xrefs":[{"source":"ICD-10","code":"E66.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016346","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303476","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2775","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":181441,"name":"Rare disorder with hypergonadotropic hypogonadism","classifications":[156,193,201]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"4039476[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4039476[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-07-18","source":"2502012[PMID]","terms":[{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0010044","label":"Short 4th metacarpal","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000864","label":"Abnormality of the hypothalamus-pituitary axis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002550","label":"Absent facial hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007464","label":"Sparse facial hair","frequency":"Frequent (79-30%)","criteria":null}]}}