{"orpha":3044,"name":"Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare, genetic, syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid habitus, diabetes mellitus type 1, and epilepsy. There have been no further descriptions in the literature since 1990.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3044/","orphanet_url":"https://www.orpha.net/en/disease/detail/3044","names":{"fr":{"name":"Syndrome de déficience intellectuelle-dysmorphie-hypogonadisme-diabète sucré","definition":"Déficience intellectuelle syndromique rare, d'origine génétique, caractérisée par une déficience intellectuelle légère à modérée, une dysmorphie faciale (visage allongé, yeux profondément situés dans les orbites, nez large avec une racine nasale étroite et un colobome nasal, prognathie mandibulaire), un hypogonadisme hypergonadotrope, une morphologie eunuchoïde, un diabète de type 1 et une épilepsie. Aucun cas n'a été décrit dans la littérature depuis 1990."},"de":{"name":"Intelligenzminderung-Dysmorphien-Hypogonadismus-Diabetes mellitus-Syndrom","definition":"Eine seltene, genetisch bedingte, syndromale Form der Intelligenzminderung, die durch eine leichte bis mittelschwere intellektuelle Beeinträchtigung, kraniofaziale Dysmorphien (u. a. langes Gesicht, tiefliegende Augen, schmale, breite Nase mit Kolobom der Nasenflügel, Unterkieferprognathie), hypergonadotrophen Hypogonadismus, eunuchoiden Habitus, Diabetes mellitus Typ 1 und Epilepsie gekennzeichnet ist. Seit 1990 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de discapacidad intelectual-dismorfia-hipogonadismo-diabetes mellitus","definition":"Es un trastorno sindrómico de discapacidad intelectual genético y poco frecuente caracterizado por discapacidad intelectual de leve a moderada, dismorfia facial (incluyendo cara alargada, ojos hundidos, nariz ancha de base estrecha con coloboma nasal, prognatismo mandibular), hipogonadismo hipergonadotrófico, hábito eunucoide, diabetes mellitus tipo 1 y epilepsia. No ha habido más casos descritos en la literatura desde 1990."},"it":{"name":"Sindrome disabilità intellettiva-dismorfismi-ipogonadismo-diabete mellito","definition":"È una disabilità intellettiva sindromica rara, di origine genetica, caratterizzata da disabilità intellettiva da lieve a moderata, dismorfismi facciali (viso allungato, occhi infossati, naso largo con base stretta e colobomi delle narici, prognatismo mandibolare), ipogonadismo ipergonadotropo, habitus eunucoide, diabete mellito tipo 1 ed epilessia. Non sono stati descritti nuovi casi dopo il 1990."},"nl":{"name":"Intellectuele achterstand - dysmorfie - hypogonadisme - diabetes mellitus-syndroom","definition":"Een zeldzame, genetische, syndromale intellectuele beperking die gekarakteriseerd wordt door milde tot matige intellectuele achterstand, faciale dysmorfie (met onder meer een lang gezicht, diepliggende ogen, brede neus met smalle basis en colobomen van de neusvleugels, mandibulaire prognathie), hypergonadotroop hypogonadisme, eunuchoïde habitus, diabetes mellitus type 1, en epilepsie. Sinds 1990 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-dismorfia-hipogonadismo-diabetes mellitus"},"pl":{"name":"Niepełnosprawność intelektualna - dysmorfia - hipogonadyzm - cukrzyca"},"cs":{"name":"Syndrom zahrnující mentální retardaci, dysmorfismus, hypogonadismus a diabetes mellitus"},"uk":{"name":"Синдром інтелектуальної недостатності-дисморфізму-гіпогонадизму-цукрового діабету","definition":"A rare, genetic, syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid habitus, diabetes mellitus type 1, and epilepsy. There have been no further descriptions in the literature since 1990."},"zh":{"name":"智力障碍-畸形-性腺功能减退--糖尿病综合征"},"tr":{"name":"Zihinsel yetersizlik-dismorfizm-hipogonadizm-diabetes mellitus sendromu"}},"xrefs":[{"source":"OMIM","code":"249599","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009581","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537447","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855303","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9811","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":181371,"name":"Rare diabetes mellitus type 1","classifications":[193]},{"orpha":181441,"name":"Rare disorder with hypergonadotropic hypogonadism","classifications":[156,193,201]},{"orpha":183625,"name":"Rare genetic diabetes mellitus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"2107046[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2107046[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-14","source":"2107046[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003191","label":"Cleft ala nasi","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008232","label":"Elevated circulating follicle stimulating hormone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011969","label":"Elevated circulating luteinizing hormone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003782","label":"Eunuchoid habitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012809","label":"Narrow nasal base","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002225","label":"Sparse pubic hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100783","label":"Breast aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002373","label":"Febrile seizure (within the age range of 3 months to 6 years)","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008988","label":"Pelvic girdle muscle atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}