{"orpha":391307,"name":"Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, syndromic intellectual disability syndrome characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism, that typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition, is also characteristic.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391307/","orphanet_url":"https://www.orpha.net/en/disease/detail/391307","names":{"fr":{"name":"Syndrome de déficience intellectuelle sévère-petite taille-troubles du comportement-dysmorphie faciale","definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par une déficience intellectuelle sévère et un langage et une parole limités, voire absents, une petite taille, une microcéphalie acquise, une cyphoscoliose ou une scoliose, et des troubles du comportement à type d'hyperactivité, de stéréotypies et d'agressivité. Une dysmorphie faciale, qui se traduit généralement par un front fuyant, une légère synophridie, des yeux enfoncés dans les orbites, un strabisme, de grandes oreilles antéversées, un nez proéminent et une malposition dentaire, est également caractéristique."},"de":{"name":"Schwere Intelligenzminderung-Kleinwuchs-Verhaltensstörungen-Gesichtsdysmorphie-Syndrom"},"es":{"name":"Síndrome de discapacidad intelectual-talla baja-trastornos de conducta-dismorfia facial","definition":"El síndrome de discapacidad intelectual - talla baja - trastornos de conducta - dismorfia facial es un trastorno de discapacidad intelectual sindrómico, genético y poco frecuente, que se caracteriza por discapacidad intelectual grave con habla y lenguaje limitados o ausentes, talla baja, microcefalia adquirida, cifo- / escoliosis y trastornos conductuales que incluyen hiperactividad, estereotipia y agresividad. También es característica la dismorfia facial que, por lo general, incluye frente inclinada, sinofris leve, ojos hundidos, estrabismo, orejas grandes antevertidas, nariz prominente y malposición dentaria."},"it":{"name":"Sindrome da disabilità intellettiva grave, bassa statura, anomalie del comportamento e dismorfismi facciali","definition":"La sindrome che associa la disabilità intellettiva grave, la bassa statura, le anomalie del comportamento e i dismorfismi facciali è una malattia genetica rara da disabilità intellettiva sindromica, caratterizzata da disabilità intellettiva grave con completa assenza o problemi del linguaggio, bassa statura, microcefalia acquisita, cifoscoliosi o scoliosi e disturbi del comportamento (iperattività, stereotipia ed aggressività). I dismorfismi facciali caratteristici di solito comprendono la fronte sfuggente, la lieve sinofria, gli occhi infossati, lo strabismo, le orecchie grandi ed anteverse, il naso prominente e la malposizione dei denti."},"nl":{"name":"Ernstige intellectuele achterstand - kleine gestalte - gedragsstoornissen - faciale dysmorfie-syndroom","definition":"Ernstige intellectuele achterstand - kleine gestalte - gedragsstoornissen - faciale dysmorfie-syndroom is een zeldzame, genetische, syndromale intellectuele invaliditeit die gekarakteriseerd wordt door ernstige intellectuele achterstand met beperkte of afwezige spraak en taal, kleine gestalte, verworven microcefalie, kyfoscoliose of scoliose, en gedragsstoornissen waaronder hyperactiviteit, stereotypie en agressiviteit. Faciale dysmorfie, met doorgaans hellend voorhoofd, milde synophrys, diepliggende ogen, strabisme, grote oren met anteversie, prominente neus en dentale malpositie, is ook kenmerkend."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual grave-baixa estatura-perturbação comportamental-dismorfia facial"},"pl":{"name":"Zespół znaczna niepełnosprawność intelektualna-niski wzrost-problemy z zachowaniem-dysmorfia twarzy","definition":"*Zespół znaczna niepełnosprawność intelektualna-niski wzrost-problemy z zachowaniem-dysmorfia twarzy to rzadki, genetycznie uwarunkowany zespół niepełnosprawności intelektualnej, który charakteryzuje się znaczną niepełnosprawnością intelektualną z ograniczonym rozwojem mowy lub jej brakiem, niskim wzrostem, nabytym małogłowiem, kifoskoliozą lub skoliozą oraz zaburzeniami zachowania, które obejmują nadpobudliwość, stereotypie i agresję. Charakterystyczna jest również dysmorfia twarzy, na którą zazwyczaj składa się spadziste czoło, łagodne zrośnięcie brwi, głęboko osadzone gałki oczne, zez, duże, odstające ku przodowi uszy, wydatny nos i nieprawidłowe ustawienie zębów."},"cs":{"name":"Syndrom zahrnující těžkou mentální retardaci, malý vzrůst, poruchy chování a faciální dysmorfismus"},"uk":{"name":"Синдром тяжкої розумової відсталостїі-низькорослістю-поведінковими відхиленнями- дисморфізму обличчя","definition":"A rare, genetic, syndromic intellectual disability syndrome characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism, that typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition, is also characteristic."},"zh":{"name":"重度智力障碍-身材矮小-行为异常-面部畸形综合征","definition":"严重智力障碍-身材矮小-行为异常-面部变形综合症是一种罕见的遗传性综合征候性智力残疾障碍，其特征是严重智力障碍、言语和语言受限或缺失、身材矮小、获得性小头畸形、脊柱后凸或脊柱侧凸，以及包括多动、刻板印象和攻击性在内的行为障碍。面部畸形也是本病的特征，典型畸形包括额头倾斜、轻度连眉、眼睛深陷、斜视、大耳朵前倾、鼻子突出和牙齿错位。"},"tr":{"name":"Ağır zihinsel yetersizlik-kısa boy-davranışsal anomalliler-dismorfik yüz sendromu"}},"xrefs":[{"source":"OMIM","code":"615541","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014238","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750851","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]}],"children":[],"genes":[{"symbol":"TTI2","name":"TELO2 interacting protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23956177[PMID]","hgnc":"26262","ensembl":"ENSG00000129696","omim":"614426","loci":["8p12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"23956177[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":"2019-11-26","source":"31737043[PMID]_31290144[PMID]_23956177[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"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:0002751","label":"Kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002486","label":"Myotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null}]}}