{"orpha":397973,"name":"Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MOMES syndrome"],"definition":"Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397973/","orphanet_url":"https://www.orpha.net/en/disease/detail/397973","names":{"fr":{"name":"Syndrome de déficience intellectuelle-obésité-prognathisme-anomalies oculaires et cutanées","synonyms":["Syndrome MOMES"],"definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par une déficience intellectuelle légère à profonde, un retard de langage, une obésité, des anomalies oculaires (blépharophimosis, blépharoptose, astigmatisme hyperopique, baisse de l'acuité visuelle, strabisme, paralysie du nerf abducens et/ou ésotropie accommodative) et des manifestations cutanées, telles qu'une dermatite atopique chronique. La dysmorphie craniofaciale associée est à type de macrocéphalie, d'hypoplasie maxillaire, de prognathisme mandibulaire et d'encombrement dentaire."},"de":{"name":"Intelligenzminderung-Adipositas-Prognathie-Augen- und Hautanomalien-Syndrom","synonyms":["MOMES-Syndrom"]},"es":{"name":"Síndrome de discapacidad intelectual-obesidad-prognatismo-anomalías oculares y cutáneas","synonyms":["Síndrome MOMES"],"definition":"Es un trastorno de discapacidad intelectual sindrómico, genético y poco frecuente, caracterizado por discapacidad intelectual de leve a profunda, retraso del habla, obesidad, anomalías oculares (blefarofimosis, blefaroptosis, astigmatismo hipermetrópico, disminución de la agudeza visual, estrabismo, parálisis del nervio abducens, y/o esotropía acomodativa), y manifestaciones cutáneas tales como dermatitis atópica crónica. La dismorfia craneofacial asociada incluye macrocefalia, hipoplasia maxilar, prognatismo mandibular y apiñamiento dental."},"it":{"name":"Sindrome disabilità intellettiva-obesità -prognatismo-anomalie oculari e cutanee","synonyms":["Sindrome MOMES"],"definition":"La sindrome che associa la disabilità intellettiva, l'obesità, il prognatismo e le anomalie oculari e cutanee è una malattia genetica rara da disabilità intellettiva, caratterizzata da disabilità intellettiva lieve-grave, ritardo del linguaggio, obesità, anomalie oculari (blefarofimosi, blefaroptosi, astigmatismo iperopico, riduzione dell'acuità visiva, strabismo, paralisi del nervo abducente e/o esotropia accomodativa) e cutanee, compresa la dermatite atopica cronica. Si associa ai dismorfismi craniofacciali, come la macrocefalia, l'ipoplasia mascellare, il prognatismo e l'affastellamento dei denti."},"nl":{"name":"Intellectuele achterstand - obesitas - prognathie - oog- en huidanomalieën-syndroom","synonyms":["MOMES-syndroom"],"definition":"Intellectuele achterstand - obesitas - prognathie - oog- en huidanomalieën-syndroom is een zeldzame, genetische, syndromale intellectuele invaliditeit die gekarakteriseerd wordt door milde tot zeer ernstige intellectuele achterstand, vertraagde spraak, obesitas, oculaire anomalieën (blefarofimose, blefaroptose, verziend astigmatisme, verminderde visus, strabisme, verlamming van de nervus abducens (VIde hersenzenuw), en/of accommodatieve esotropie), en dermale manifestaties zoals chronische atopische dermatitis. Geassocieerde craniofaciale dysmorfie omvat macrocefalie, maxillaire hypoplasie, mandibulaire prognathie, en overlappende tanden."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-obesidade-prognatismo-anomalias oculares e cutâneas","synonyms":["Síndrome MOMES"]},"pl":{"name":"Zespół niepełnosprawność intelektualna - otyłość - prognatyzm - wady oczu i skóry","synonyms":["Zespół MOMES"],"definition":"*Zespół niepełnosprawność intelektualna - otyłość - prognatyzm - wady oczu i skóry jest rzadkim, genetycznie uwarunkowanym zespołem z niepełnosprawnością intelektualną, który charakteryzuje się lekką lub głęboką niepełnosprawnością intelektualną, opóźnioną mową, otyłością, wadami narządu wzroku (skrócenie szpar powiekowych, opadanie powiek, astygmatyzm nadwzroczny, obniżona ostrość wzroku, zez, porażenie nerwu odwodzącego i/lub zez zbieżny akomodacyjny) oraz objawami skórnymi, takimi jak przewlekłe atopowe zapalenie skóry. Towarzysząca dysmorfia twarzoczaszki obejmuje wielkogłowie, niedorozwój szczęki, prognatyzm żuchwowy i stłoczenie zębów.inf brsup"},"cs":{"name":"Syndrom zahrnující mentální retardaci, obezitu, prognácii a anomálie očí a kůže","synonyms":["MOMES syndrom"]},"uk":{"name":"Синдром інтелектуальної недостатності-ожиріння-прогнатизму-аномалій очей та шкіри","synonyms":["Синдром MOMES"],"definition":"Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth."},"zh":{"name":"智力障碍-肥胖-下颌前凸-眼及皮肤异常综合征","synonyms":["MOMES综合征"],"definition":"智力障碍-肥胖-凸颚-眼睛和皮肤异常综合征是一种罕见的遗传性智力残疾综合征，其特征是轻至极重度智力障碍、言语迟缓、肥胖、眼睛异常(眼睑畸形、眼睑下垂、远视性散光、视力下降、斜视、外展神经麻痹和/或调节性内斜视)以及皮肤表现，如慢性特应性皮炎。本病可伴随有颅面畸形，包括大头畸形、上颌发育不良、下颌前突和牙齿拥挤。"},"tr":{"name":"Zihinsel yetersizlik-obezite-öne çıkık çene-göz ve cilt anomalileri sendromu","synonyms":["MOMES sendromu"]}},"xrefs":[{"source":"OMIM","code":"606772","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011722","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564660","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847522","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":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"11746007[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11746007[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-03","source":"19288561[PMID]_11746007[PMID]","terms":[{"hpo":"HP:0006897","label":"Abducens palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001047","label":"Atopic dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010164","label":"Cone-shaped epiphyses of the toes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006333","label":"Crowded maxillary incisors","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000484","label":"Hyperopic astigmatism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","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:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100046","label":"Cone-shaped epiphyses of the 2nd toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100057","label":"Cone-shaped epiphyses of the 3rd toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100068","label":"Cone-shaped epiphyses of the 4th toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100271","label":"Hyponasal speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002690","label":"Large sella turcica","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null}]}}