{"orpha":697760,"name":"Intellectual disability-nasal speech-craniofacial dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, hypotonia and characteristic nasal speech associated with language delay. Distinctive craniofacial dysmorphic features include a high and flat forehead, straight and thick eyebrows, deep-set eyes, upslanting palpebral fissures, short triangular nose with anteverted nares, thin upper lip, mild micrognathia/retrognathia, and low-set ears. Feeding problems, seizures, behavioral abnormalities, variable skeletal and hand/foot anomalies may also be present in some patients. This syndrome can develop in patients harboring <i>CNOT2</i> mutation or intragenic deletion, or presenting with 12q15q21 microdeletion.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-697760/","orphanet_url":"https://www.orpha.net/en/disease/detail/697760","names":{"fr":{"name":"Syndrome de déficience intellectuelle-voix nasonnée-dysmorphie craniofaciale","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par un retard de développement, une déficience intellectuelle, une hypotonie et une voix nasonnée typique associée à un retard de langage. Une dysmorphie craniofaciale caractéristique est observée&nbsp;: un front haut et plat, des sourcils droits et épais, des yeux enfoncés dans les orbites, des fentes palpébrales orientées vers le haut, un nez court et triangulaire et des narines antéversées, une lèvre supérieure fine, une micrognathie/rétrognathie légère et des oreilles d'implantation basse. Des troubles alimentaires, des convulsions, des troubles du comportement, ainsi que diverses déformations squelettiques et des mains/pieds peuvent également être observés chez certains patients. Le syndrome peut se développer chez les patients porteurs d'une mutation ou d'une délétion intragénique du gène <i>CNOT2</i>, ou d'une microdélétion en 12q15q21."},"de":{"name":"Intelligenzminderung-nasale Sprache-kraniofaziale Dysmorphie-Syndrom","synonyms":["Intellektuelle Entwicklungsstörung mit nasaler Sprache, dysmorphen Gesichtszügen und variablen Skelettanomalien","IDNADFS"]},"es":{"name":"Síndrome de discapacidad intelectual-voz nasal-dismorfia craneofacial"},"it":{"name":"Sindrome disabilità intellettiva-voce nasale-dismorfismi craniofacciali"},"nl":{"name":"Intellectuele achterstand - nasale spraak - craniofaciale dysmorfie-syndroom"},"pt":{"name":"Intellectual disability-nasal speech-craniofacial dysmorphism syndrome"},"pl":{"name":"Intellectual disability-nasal speech-craniofacial dysmorphism syndrome"},"cs":{"name":"Intellectual disability-nasal speech-craniofacial dysmorphism syndrome"}},"xrefs":[{"source":"OMIM","code":"618608","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":[{"orpha":289513,"name":"12q15q21 microdeletion syndrome","type":"Etiological subtype"},{"orpha":697764,"name":"Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"CNOT2","name":"CCR4-NOT transcription complex subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36224108[PMID]","hgnc":"7878","ensembl":"ENSG00000111596","omim":"604909","loci":["12q15"],"via":{"orpha":697764,"name":"Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation"}},{"symbol":"CNOT2","name":"CCR4-NOT transcription complex subunit 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"31145527[PMID]","hgnc":"7878","ensembl":"ENSG00000111596","omim":"604909","loci":["12q15"],"via":{"orpha":289513,"name":"12q15q21 microdeletion syndrome"}}],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}