{"orpha":600668,"name":"CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, severe intellectual disability, severe speech and communication problems and distinctive dysmorphic faces (high hairline, thin eyebrows, hypertelorism, dysmorphic ears, broad nasal bridge and tip, and narrow jaw). Height is not affected. Some patients may also present autistic behaviors.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-600668/","orphanet_url":"https://www.orpha.net/en/disease/detail/600668","names":{"fr":{"name":"Syndrome de trouble neurodéveloppemental-déficience intellectuelle sévère-dysmorphisme facial associé à CCNK","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par un retard de développement, une déficience intellectuelle sévère, de graves troubles du langage et de la communication et une dysmorphie faciale caractéristique (implantation haute des cheveux, sourcils fins, hypertélorisme, anomalies d'oreilles, pont et pointe du nez larges et mâchoire étroite). La taille n'est pas affectée. Certains patients peuvent également présenter des comportements caractéristiques du trouble du spectre de l'autisme."},"de":{"name":"CCNK-abhängige neurologische Entwicklungsstörung-schwere Intelligenzminderung-Gesichtsdysmorphie-Syndrom","definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch Entwicklungsverzögerung, schwere Intelligenzminderung, schwere Sprach- und Kommunikationsprobleme und ausgeprägte Gesichtsdysmorphien (hoher Haaransatz, dünne Augenbrauen, Hypertelorismus, dysmorphe Ohren, breiter Nasenrücken und -spitze sowie schmaler Kiefer) gekennzeichnet ist. Die Körpergröße ist nicht betroffen. Einige Patienten können autistische Verhaltensweisen zeigen."},"es":{"name":"Síndrome de trastorno del neurodesarrollo-discapacidad intelectual grave-dismorfia facial asociado a CCNK","definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas caracterizado por retraso del desarrollo, discapacidad intelectual grave, problemas graves del habla y la comunicación, y rostro dismórfico distintivo (línea de implantación del cabello alta, cejas finas, hipertelorismo, orejas dismórficas, puente y punta nasal anchos y mandíbula estrecha). La talla no se ve afectada. Algunos pacientes también pueden presentar rasgos de conducta autistas."},"it":{"name":"Malattia sindromica del neurosviluppo, grave disabilità intellettiva e dismorfismi facciali correlata a CCNK"},"nl":{"name":"CCNK-gerelateerd syndroom van neurologische ontwikkelingsstoornis - ernstige intellectuele achterstand - faciale dysmorfie","definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door ontwikkelingsachterstand, ernstige intellectuele achterstand, ernstige spraak- en communicatieproblemen, en typisch dysmorf gelaat (hoge haarlijn, dunne wenkbrauwen, hypertelorisme, dysmorfe oren, brede neusbrug en -punt, en smalle kaak). De lichaamslengte wordt niet aangetast. Sommige patiënten kunnen ook autistisch gedrag vertonen."},"pt":{"name":"Síndrome de perturbação do neurodesenvolvimento-perturbação grave do desenvolvimento intelectual-dismorfia facial CCNK-relacionada","definition":"Síndrome rara de anomalias congénitas múltiplas/dismórficas caracterizada por atraso no desenvolvimento, perturbação grave do desenvolvimento intelectual, problemas graves de fala e comunicação e facies dismórficas distintas (linha do cabelo alta, sobrancelhas finas, hipertelorismo, orelhas dismórficas, ponte e ponta nasal largas e mandíbula estreita). A altura não é afetada. Alguns doentes também podem apresentar comportamentos autistas."},"pl":{"name":"Zespół zaburzenia neurorozwojowego, znacznej niepełnosprawności intelektualnej oraz dysmorfii twarzy związany z CCNK","definition":"Rzadki zespół mnogich wad wrodzonych/zespół dysmorficzny, który charakteryzuje się opóźnieniem rozwoju, ciężką niepełnosprawnością intelektualną, poważnymi problemami z mową i komunikacją oraz charakterystycznymi dysmorficznymicechami twarzy (wysoka linia włosów, cienkie brwi, hiperteloryzm, dysmorficzne uszy, szeroki grzbiet i czubek nosa oraz wąska szczęka). Wzrost jest prawidłowy. U niektórych pacjentów mogą występować zachowania autystyczne."},"cs":{"name":"Syndrom zahrnující neurovývojovou poruchu související s CCNK, těžkou mentální retardaci a obličejový dysmorfismus"},"uk":{"name":"CCNK-повязаний синдром порушення нейророзвитку-тяжкої розумової відсталості-лицьового дизморфізму","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, severe intellectual disability, severe speech and communication problems and distinctive dysmorphic faces (high hairline, thin eyebrows, hypertelorism, dysmorphic ears, broad nasal bridge and tip, and narrow jaw). Height is not affected. Some patients may also present autistic behaviors."},"tr":{"name":"CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome"}},"xrefs":[{"source":"OMIM","code":"618147","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G93.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035775","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681527","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":"CCNK","name":"cyclin K","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30122539[PMID]","hgnc":"1596","ensembl":"ENSG00000090061","omim":"603544","loci":["14q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"30122539[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"30122539[PMID]_ORPHANET"}],"phenotypes":null}