{"orpha":251383,"name":"CK syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome"],"definition":"CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251383/","orphanet_url":"https://www.orpha.net/en/disease/detail/251383","names":{"fr":{"name":"Syndrome CK","synonyms":["Syndrome de déficience intellectuelle liée à l'X-microcéphalie-malformation corticale-habitus mince"],"definition":"Déficience intellectuelle syndromique rare liée à l'X d'origine génétique, caractérisée par une déficience intellectuelle légère à sévère, des crises convulsives apparaissant dans la petite enfance, une microcéphalie post-natale, des malformations du cortex cérébral, une dysmorphie faciale (visage long et étroit, fentes palpébrales en amande, épicanthus, pont nasal haut, aplatissement malaire, oreilles orientées vers l'arrière, palais ogival, encombrement dentaire, micrognathie) et un habitus mince. Parmi les caractéristiques supplémentaires figurent les doigts et les orteils longs et fins, un strabisme, une hypotonie, une spasticité, une atrophie du disque optique et des troubles du comportement (agressivité, trouble déficitaire de l'attention avec hyperactivité et irritabilité)."},"de":{"name":"CK-Syndrom","synonyms":["X-chromosomale Intelligenzminderung-Mikrozephalie-kortikale Fehlbildung-schlanker Habitus-Syndrom"]},"es":{"name":"Síndrome CK","synonyms":["Discapacidad intelectual ligada al cromosoma X-microcefalia-malformación cortical-hábito delgado"],"definition":"Es un trastorno de discapacidad intelectual sindrómico ligado al cromosoma X, genético y poco frecuente, caracterizado por discapacidad intelectual de leve a grave, convulsiones de inicio en la lactancia, microcefalia postnatal, malformaciones corticales cerebrales, rasgos faciales dismórficos (que incluyen cara alargada y estrecha, fisuras palpebrales almendradas, pliegues epicánticos, puente nasal alto, aplanamiento malar, orejas rotadas posteriormente, paladar ojival, dientes apiñados, micrognacia) y constitución física delgada. Otras características adicionales son: dedos de manos y pies largos y delgados, estrabismo, hipotonía, espasticidad, atrofia del disco óptico y problemas conductuales (agresión, trastorno de hiperactividad con déficit de atención e irritabilidad)."},"it":{"name":"Sindrome CK","synonyms":["Ritardo mentale legato all'X - microcefalia - malformazione corticale - habitus magro"],"definition":"La sindrome CK è una malattia genetica rara da disabilità intellettiva legata all'X, caratterizzata da disabilità intellettiva lieve-grave, crisi epilettiche ad esordio neonatale, microcefalia postnatale, malformazioni della corteccia cerebrale, dismorfismi facciali (viso allungato e stretto, rime palpebrali ''a mandorla'', epicanto, sella nasale prominente, appiattimento della regione malare, orecchie ruotate posteriormente, palato ogivale, denti affastellati, micrognazia) e habitus esile. Altri segni clinici sono l'allungamento e l'assottigliamento delle dita delle mani e dei piedi, lo strabismo, l'ipotonia, la spasticità, l'atrofia del disco ottico e i problemi comportamentali (aggressività, deficit di attenzione/iperattività ed irritabilità)."},"nl":{"name":"CK-syndroom","synonyms":["X-gebonden intellectuele achterstand - microcefalie - corticale malformatie - dunne habitus-syndroom"],"definition":"CK-syndroom is een zeldzame, genetische, X-gebonden, syndromale intellectuele invaliditeit die gekarakteriseerd wordt door milde tot ernstige intellectuele achterstand, in de zuigelingentijd aanvangende insulten, postnatale microcefalie, cerebrale corticale malformaties, dysmorfe gelaatskenmerken (waaronder een lang en smal gezicht, amandelvormige ooglidspleten, epicanthusplooien, hoge neusbrug, platte jukbeenderen, naar achteren gedraaide oren, hoog gebogen verhemelte, overlappende tanden, micrognathie) en smalle lichaamsbouw. Bijkomende kenmerken zijn lange en slanke vingers/tenen, strabisme, hypotonie, spasticiteit, atrofie van de oogzenuwkop, en gedragsproblemen (agressie, aandachtstekortstoornis met hyperactiviteit en prikkelbaarheid)."},"pt":{"name":"Síndrome CK","synonyms":["Síndrome de perturbação do desenvolvimento intelectual ligada ao X-microcefalia-malformação cortical-habitus delgado"]},"pl":{"name":"Zespół CK","synonyms":["Niepełnosprawność intelektualna sprzęzona z chromosomem X - małogłowie - malformacja kory mózgu - szczupły wygląd"]},"cs":{"name":"CK syndrom","synonyms":["Syndrom zahrnující X-vázanou mentální retardaci, mikrocefalii, kortikální malformaci a astenický habitus"]},"uk":{"name":"CK cиндром","synonyms":["Х-зчеплений синдром розумової відсталості-мікроцефалії-кортикальної мальформації- тонкого габітусу"],"definition":"CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features."},"zh":{"name":"CK综合征","synonyms":["X连锁智力障碍-小头畸形-皮质畸形-瘦体质综合征"],"definition":"CK综合征是一种罕见的遗传性X连锁综合征性的智力障碍疾病，以轻度至重度智力障碍、婴儿期癫痫发作、出生后小头畸形、大脑皮质畸形、面部畸形(包括长而窄的脸、杏仁状的眼裂、内眦赘皮、高鼻梁、颧骨扁平、耳朵后旋、高腭弓、牙齿拥挤、小颌畸形)和身体纤细为特征。细长的手指/脚趾，斜视，肌张力低下，痉挛，视盘萎缩，以及行为问题(攻击性，注意力缺陷多动障碍和易怒)都是额外的特征。"},"tr":{"name":"CK sendromu","synonyms":["X'e bağlı zihinsel yetersizlik-mikrosefali-kortikal malformasyon-ince habitus sendromu"]}},"xrefs":[{"source":"OMIM","code":"300831","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0010441","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3151781","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","classifications":[156]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":79195,"name":"Sterol biosynthesis disorder","classifications":[147,150,156]}],"children":[],"genes":[{"symbol":"NSDHL","name":"NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21129721[PMID]_21290788[PMID]","hgnc":"13398","ensembl":"ENSG00000147383","omim":"300275","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":24.0,"area":"Worldwide","status":"Validated","source":"21290788[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21290788[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-22","source":"19842190[PMID]_21129721[PMID]","terms":[{"hpo":"HP:0002538","label":"Abnormality of the cerebral cortex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007874","label":"Almond-shaped palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025406","label":"Asthenia","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:0000678","label":"Dental crowding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100807","label":"Long fingers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010511","label":"Long toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001533","label":"Slender build","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","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:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003107","label":"Abnormality of cholesterol metabolism","frequency":"Excluded (0%)","criteria":null}]}}