{"orpha":2233,"name":"Hypogonadism-mitral valve prolapse-intellectual disability syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Cantalamessa-Baldini-Ambrosi syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild intellectual disability, hypogonadism due to primary gonadal failure, mitral valve prolapse, and short stature. Dysmorphic features include low posterior hairline, highly arched palate, short neck, short fourth metacarpals, and cubitus valgus. There have been no further descriptions in the literature since 1989.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2233/","orphanet_url":"https://www.orpha.net/en/disease/detail/2233","names":{"fr":{"name":"Syndrome d'hypogonadisme-prolapsus de la valve mitrale-déficience intellectuelle","synonyms":["Syndrome de Cantalamessa-Baldini-Ambrosi"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par une déficience intellectuelle légère, un hypogonadisme dû à une insuffisance gonadique primaire, un prolapsus de la valve mitrale et une petite taille. La dysmorphie se traduit par une implantation basse des cheveux à l'arrière du crâne, un palais arqué, un cou court, les 4<sup>es</sup> métacarpiens courts et un cubitus valgus. Aucun nouveau cas n'a été décrit dans la littérature depuis 1989."},"de":{"name":"Hypogonadismus-Mitralklappenprolaps-Intelligenzminderung-Syndrom","synonyms":["Cantalamessa-Baldini-Ambrosi-Syndrom"]},"es":{"name":"Síndrome de hipogonadismo-prolapso de válvula mitral-discapacidad intelectual","synonyms":["Síndrome de Cantalamessa-Baldini-Ambrosi"],"definition":"Este síndrome se caracteriza por la asociación de hipogonadismo hipogonadotrópico (hipogonadismo debido a insuficiencia gonadal primaria), prolapso de la válvula mitral, déficit intelectual leve y estatura baja."},"it":{"name":"Sindrome ipogonadismo-prolasso della valvola mitrale-disabilità intellettiva","synonyms":["Sindrome di Cantalamessa-Baldini-Ambrosi"]},"nl":{"name":"Hypogonadisme - mitralisklepprolaps - intellectuele achterstand-syndroom","synonyms":["Syndroom van Cantalamessa-Baldini-Ambrosi"],"definition":"Dit syndroom wordt gekarakteriseerd door de associatie van hypogonadisme door primair gonadal failure, mitralisklepprolaps, milde intellectuele achterstand en kleine gestalte."},"pt":{"name":"Síndrome de hipogonadismo-prolapso da válvula mitral-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Cantalamessa-Baldini-Ambrosi"],"definition":"Esta síndrome é caracterizada pela associação de hipogonadismo por insuficiência gonadal primária, prolapso da valva mitral, atraso mental ligeiro e baixa estatura."},"pl":{"name":"Hipogonadyzm - wypadanie płatka zastawki mitralnej - niepełnosprawność intelektualna","synonyms":["Zespół Cantalamessa,Baldiniego i Ambrosi"]},"cs":{"name":"Syndrom zahrnující hypogonadismus, prolaps mitrální chlopně a mentální retardaci","synonyms":["Cantalamessův-Baldiniho-Ambrosiův syndrom","Cantalamessa-Baldini-Ambrosiův syndrom"]},"uk":{"name":"Синдром гіпогонадизму - пролапсу мітрального клапана - інтелектуальної недостатності","synonyms":["Синдром Канталамесса-Бальдіні-Амброзі"],"definition":"This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature."},"zh":{"name":"性腺功能减退-二尖瓣脱垂-智力障碍综合征","synonyms":["Cantalamessa-Baldini-Ambrosi综合征"]},"tr":{"name":"Hipogonadizm-mitral kapak prolapsusu-zihinsel yetersizlik sendromu","synonyms":["Cantalamessa-Baldini-Ambrosi sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016385","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537981","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931685","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1078","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"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":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2502012[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2502012[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011362","label":"Abnormal hair quantity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000035","label":"Abnormal testis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Frequent (79-30%)","criteria":null}]}}