{"orpha":457240,"name":"X-linked intellectual disability-short stature-overweight syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-457240/","orphanet_url":"https://www.orpha.net/en/disease/detail/457240","names":{"fr":{"name":"Syndrome de déficience intellectuelle liée à l'X-petite taille-surpoids","definition":"Le syndrome de déficience intellectuelle liée à l'X-petite-taille-surpoids est un syndrome congénital d'anomalies multiples caractérisé par un déficit intellectuel léger à sévère, un retard de la parole, une petite taille, un indice de masse corporelle élevé, un schéma d'obésité au niveau du tronc (rapportée chez les hommes plus âgés), et des signes neurologiques variés (hypotonie, tremblements, troubles de la marche, troubles du comportement, convulsions). Les manifestations les plus rares incluent une microcéphalie, une micro-orchidie et/ou un microphallus. Une dysmorphie faciale a été rapportée chez certains patients, mais aucun schéma cohérent n'a été noté."},"de":{"name":"X-chromosomale Intelligenzminderung-Kleinwuchs-Übergewicht-Syndrom","definition":"Ein Syndrom mit multiplen kongenitalen Anomalien, das durch grenzwertige bis schwere Intelligenzminderung, Sprachverzögerung, Kleinwuchs, erhöhten Body-Mass-Index, ein Muster von Stammfettleibigkeit (bei älteren Männern berichtet) und variable neurologische Merkmale (z. B. Hypotonie, Tremor, Gangstörungen, Verhaltensprobleme und Anfallsleiden) gekennzeichnet ist. Zu den selteneren Manifestationen gehören Mikrozephalie, Mikroorchismus und/oder Mikrophallus. Dysmorphe Merkmale wurden bei einigen Patienten berichtet, aber es wurde kein einheitliches Muster festgestellt."},"es":{"name":"Síndrome de discapacidad intelectual-talla baja-sobrepeso ligado al cromosoma X","definition":"El síndrome de discapacidad intelectual-estatura baja-sobrepeso ligado al X es un síndrome debido a anomalías congénitas múltiples caracterizado por discapacidad intelectual de límite a grave, retraso del habla, estatura baja, índice de masa corporal elevado, patrón de obesidad troncal (reportado en varones de más edad) y características neurológicas variables (tales como hipotonía, temblores, trastornos de la marcha, problemas de conducta y trastornos convulsivos). Otras manifestaciones menos comunes incluyen microcefalia, microorquidismo y / o microfalosomía. En algunos pacientes se han descrito características dismórficas, pero no se ha observado ningún patrón consistente."},"it":{"name":"Sindrome disabilità intellettiva-bassa statura-sovrappeso legata all'X","definition":"La sindrome da disabilità intellettiva con bassa statura e sovrappeso legata all'X è una malattia da anomalie congenite multiple; è caratterizzata da disabilità intellettiva di gravità variabile (borderline-grave), ritardo del linguaggio, bassa statura, elevato indice di massa corporea, obesità del tronco (nei maschi più anziani) e segni neurologici variabili (ipotonia, tremori, anomalie della deambulazione, problemi comportamentali, crisi epilettiche). Sono meno comuni la microcefalia, il microorchidismo e/o il micropene. Alcuni pazienti presentano dismorfismi facciali, ma non sono state osservate caratteristiche ricorrenti."},"nl":{"name":"X-gebonden intellectuele achterstand - kleine gestalte - overgewicht-syndroom","definition":"X-gebonden intellectuele achterstand - kleine gestalte - overgewicht-syndroom is een syndroom met meervoudige congenitale anomalieën dat gekarakteriseerd wordt door beperkte tot ernstige intellectuele achterstand, spraakachterstand, kleine gestalte, verhoogde lichaamsgewichtindex, een patroon van truncale obesitas (gerapporteerd bij oudere mannen), en variabele neurologische kenmerken (e.g. hypotonie, tremors, gangstoornissen, gedragsproblemen, en epileptische stoornissen). Minder vaak voorkomende manifestaties zijn onder meer microcefalie, micro-orchidie, en/of micropenis. Bij sommige patiënten werden dysmorfe kenmerken gerapporteerd, maar er werd geen consistent patroon opgemerkt."},"pt":{"name":"Síndrome de défice intelectual – baixa estatura – excesso de peso ligada ao cromossoma X"},"pl":{"name":"Zespół niepełnosprawności intelektualnej, niskiego wzrostu i nadwagi sprzężony z chromosomem X"},"cs":{"name":"Syndrom zahrnující X-vázanou mentální retardaci, malý vzrůst a nadváhu"},"uk":{"name":"Х-зчеплений синдром розумової відсталості-низькорослості-надмірної ваги","definition":"X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted."},"zh":{"name":"X连锁-智力障碍-身材矮小-超重综合征","definition":"X-连锁智力障碍-身材矮小-超重综合征是一种多发性先天性异常综合征，其特征是边缘性至重度智力障碍、语言发育迟缓、身材矮小、体重指数升高、躯干性肥胖（在老年男性中有报告），以及不同的神经系统特征（如肌张力低下、震颤、步态障碍、行为问题和癫痫病）。较少见的表现包括小头畸形、小眼症和（或）小眼球。一些患者有畸形特征，但都是不一样的畸形。"},"tr":{"name":"X'e bağlı zihinsel yetersizlik-kısa boy-aşırı kilo sendromu"}},"xrefs":[{"source":"OMIM","code":"300957","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010496","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681122","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":3059,"name":"X-linked intellectual disability, Gu type","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"THOC2","name":"THO complex subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26166480[PMID]","hgnc":"19073","ensembl":"ENSG00000125676","omim":"300395","loci":["Xq25"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"26166480[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26166480[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-10","source":"26166480[PMID]","terms":[{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025502","label":"Overweight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007033","label":"Cerebellar dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004437","label":"Cranial hyperostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002171","label":"Gliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002487","label":"Hyperkinetic movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000742","label":"Self-mutilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006986","label":"Upper limb spasticity","frequency":"Occasional (29-5%)","criteria":null}]}}