{"orpha":369950,"name":"Intellectual disability-seizures-macrocephaly-obesity syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Der(8)t(8;12)"],"definition":"Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-369950/","orphanet_url":"https://www.orpha.net/en/disease/detail/369950","names":{"fr":{"name":"Syndrome de déficience intellectuelle-épilepsie-macrocéphalie-obésité","synonyms":["Der(8)t(8;12)"],"definition":"Une obésité syndromique rare causée par un réarrangement chromosomique complexe, et caractérisée par un retard de développement et un déficit intellectuel, une obésité survenant pendant l'enfance, des convulsions, une mauvaise coordination et une démarche large, une macrocéphalie et une légère dysmorphie faciale (telle que des fentes palpébrales étroites, une hypoplasie malaire et une lèvre supérieure fine), de l'eczéma, des anomalies oculaires et une personnalité sociable."},"de":{"name":"Intelligenzminderung-Krämpfe-Makrozephalie-Adipositas-Syndrom","synonyms":["Der(8)t(8;12)"]},"es":{"name":"Síndrome de discapacidad intelectual-crisis-macrocefalia-obesidad","synonyms":["Der(8)t(8;12)"],"definition":"Es un tipo obesidad sindrómica poco frecuente debida a un reordenamiento cromosómico complejo. Está caracterizado por retraso en el desarrollo y discapacidad intelectual, obesidad de inicio en la infancia, convulsiones, coordinación deficiente y marcha de base amplia, macrocefalia y leves características dismórficas (tales como fisuras palpebrales estrechas, hipoplasia malar y labio superior delgado), eccema, anomalías oculares y personalidad social."},"it":{"name":"Sindrome da disabilità intellettiva crisi epilettiche, macrocefalia e obesità","synonyms":["Der(8)t(8;12)"],"definition":"La sindrome da disabilità intellettiva, crisi epilettiche, macrocefalia e obesità è un'obesità sindromica causata da un riarrangiamento cromosomico complesso; è caratterizzata da ritardo dello sviluppo, disabilità intellettiva, obesità ad esordio infantile, crisi epilettiche, ridotta coordinazione, andatura a base allargata, macrocefalia e dismorfismi sfumati (rime palpebrali strette, ipoplasia malare, assottigliamento del labbro superiore), eczema, anomalie oculari e personalità socievole."},"nl":{"name":"Intellectuele achterstand - insulten - macrocefalie - obesitas-syndroom","synonyms":["Der(8)t(8;12)"],"definition":"Intellectuele achterstand - insulten - macrocefalie - obesitas-syndroom is een zeldzame, syndromale obesitas als gevolg van complexe chromosomale herschikking, en wordt gekarakteriseerd door ontwikkelingsachterstand en intellectuele achterstand, obesitas met aanvang in de kindertijd, insulten, ondermaatse coördinatie en gang met brede basis, macrocefalie en milde dysmorfe kenmerken (zoals smalle ooglidspleten, malaire hypoplasie en dunne bovenlip), eczeem, oculaire anomalieën en een sociale persoonlijkheid."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-convulsões-macrocefalia-obesidade"},"pl":{"name":"Zespół niepełnosprawność intelektualna-napady padaczkowe-wielkogłowie-otyłość","synonyms":["Der(8)t(8;12)"],"definition":"*Zespół niepełnosprawność intelektualna-napady padaczkowe-wielkogłowie-otyłość to rzadka syndromiczna otyłość, spowodowana złożoną rearanżacją chromosomów. W obrazie klinicznym obserwowano opóźnienie rozwoju i niepełnosprawność intelektualną, otyłość pojawiającą się w dzieciństwie, drgawki, słabą koordynację i chód na szerokiej podstawie, wielkogłowie i łagodne cechy dysmorfii (w tym wąskie szpary powiekowe, niedorozwój kości jarzmowych i cienka górna warga), wyprysk, nieprawidłowości narządu wzroku. Chorzy charakteryzują się prospołeczną osobowością.inf brsup"},"cs":{"name":"Syndrom zahrnující mentální retardaci, záchvaty, makrocefalii a obezitu","synonyms":["Der(8)t(8;12)"]},"uk":{"name":"Синдром інтелектуальної недостатності-судом-макроцефалії-ожиріння","synonyms":["Der(8)t(8;12)"],"definition":"Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality."},"zh":{"name":"智力障碍-癫痫-大头畸形-肥胖综合征","synonyms":["Der(8)t(8;12)"],"definition":"智力障碍-癫痫发作-巨头畸形-肥胖综合征是一种罕见的综合征性肥胖，由复杂的染色体重排所引发，其特征在于发育迟缓和智力障碍，儿童期肥胖、癫痫发作、协调性差和步态宽泛、步态粗大，轻度畸形（例如睑裂狭窄，颧骨发育不全和上唇薄）、湿疹、眼部异常和社会性人格。"},"tr":{"name":"Zihinsel yetersizlik-nöbetler-makrosefali-obezite sendromu","synonyms":["Der(8)t(8;12)"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018248","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749455","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":263708,"name":"Complex chromosomal rearrangement syndrome","classifications":[147,156]},{"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":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"23980137[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-04-20","source":"23980137[PMID]","terms":[{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012680","label":"Abnormality of the pineal gland","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000805","label":"Enuresis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002046","label":"Heat intolerance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000629","label":"Periorbital fullness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100703","label":"Tongue thrusting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001716","label":"Wolff-Parkinson-White syndrome","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003186","label":"Inverted nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002003","label":"Large forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001051","label":"Seborrheic dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011246","label":"Underdeveloped superior crus of antihelix","frequency":"Occasional (29-5%)","criteria":null}]}}