{"orpha":401923,"name":"9q31.1q31.3 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(9)(q31.1q31.3)","Monosomy 9q31.1q31.3"],"definition":"9q31.1q31.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401923/","orphanet_url":"https://www.orpha.net/en/disease/detail/401923","names":{"fr":{"name":"Syndrome de microdélétion 9 q31.1q31.3","synonyms":["Del(9)(q31.1q31.3)","Monosomie 9q31.1q31.3"],"definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par une déficience intellectuelle légère, une petite taille avec un indice de masse corporelle élevé, un cou court avec gibbosité cervicale et une dysmorphie faciale. Un syndrome métabolique avec diabète de type 2, hypercholestérolémie et hypertension a également été décrit."},"de":{"name":"Mikrodeletionssyndrom 9q31.1q31.3","synonyms":["Del(9)(q31.1q31.3)","Monosomie 9q31.1q31.3"]},"es":{"name":"Síndrome de microdeleción 9q31.1q31.3","synonyms":["Del(9)(q31.1q31.3)","Monosomía 9q31.1q31.3"],"definition":"Es una discapacidad intelectual sindrómica, genética y poco frecuente, caracterizada por leve discapacidad intelectual, talla baja con un índice de masa corporal elevado, cuello corto con gibus cervical y rasgos faciales dismórficos. También se ha descrito un síndrome metabólico, que incluye diabetes tipo 2, hipercolesterolemia e hipertensión."},"it":{"name":"Sindrome da microdelezione 9q31.1q31.3","synonyms":["Del(9)(q31.1q31.3)","Monosomia 9q31.1q31.3"],"definition":"La sindrome da microdelezione 9q31.1q31.3 è una disabilità intellettiva sindromica genetica rara, caratterizzata da disabilità intellettiva lieve, bassa statura con indice di massa corporea elevato, collo corto con cifosi cervicale e dismorfismi facciali. È stata riportata l'associazione con la sindrome metabolica, compreso il diabete tipo 2, l'ipercolesterolemia e l'ipertensione."},"nl":{"name":"9q31.1q31.3-microdeletiesyndroom","synonyms":["Del(9)(q31.1q31.3)","Monosomie 9q31.1q31.3"],"definition":"9q31.1q31.3 microdeletiesyndroom is een zeldzame, genetische, syndromale intellectuele invaliditeit die gekarakteriseerd wordt door milde intellectuele achterstand, kleine gestalte met hoge body mass index, korte nek met cervicale bochel en dysmorfe gelaatskenmerken. Een metabool syndroom, met onder meer type 2 diabetes, hypercholesterolemie en hypertensie, werd ook reeds gerapporteerd."},"pt":{"name":"Síndrome de microdeleção 9q31.1q31.3"},"pl":{"name":"Zespół mikrodelecji 9q31.1q31.3","synonyms":["Del(9)(q31.1q31.3)","Monosomia 9q31.1q31.3"],"definition":"*Zespół mikrodelecji 9q31.1q31.3 jest rzadkim, genetycznie uwarunkowanym zespołem z niepełnosprawnością intelektualną, który charakteryzuje się lekką niepełnosprawnością intelektualną, niskim wzrostem z wysokim wskaźnikiem masy ciała, krótką szyją z garbem szyjnym oraz dysmorficznymi rysami twarzy. Opisywano także zespół metaboliczny z cukrzycą typu 2, hipercholesterolemią i nadciśnieniem."},"cs":{"name":"Mikrodeleční syndrom 9q31.1q31.3","synonyms":["Del(9)(q31.1q31.3)","Monozomie 9q31.1q31.3"]},"uk":{"name":"Синдром мікроделеції 9q31.1q31.3","synonyms":["Del(9)(q31.1q31.3)","Моносомія 9q31.1q31.3"],"definition":"9q31.1q31.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported."},"zh":{"name":"9q31.1q31.3微缺失综合症","synonyms":["9q31.1q31.3单体"],"definition":"9q31.1q31.3微小缺失综合征是一种罕见的遗传性智力障碍综合征，主要表现为智力障碍、身材矮小、体重指数高、短颈、面部畸形。代谢相关的表型包括2型糖尿病，高胆固醇血症，也有高血压报道。"},"tr":{"name":"9q31.1q31.3 mikrodelesyon sendromu","synonyms":["Del(9)(q31.1q31.3)","Monozomi 9q31.1q31.3"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018428","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750910","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic 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":262074,"name":"Partial deletion of the long arm of chromosome 9 syndrome","classifications":[147,156]}],"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":"24376033[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24376033[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-04","source":"24376033[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011822","label":"Broad chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002947","label":"Cervical kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025502","label":"Overweight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100817","label":"Renovascular hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000894","label":"Short clavicles","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:0200055","label":"Small hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100874","label":"Thick hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null}]}}