Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Classification Malformation syndrome Synonyms X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome Niepełnosprawność intelektualna sprzęzona z chromosomem X - małogłowie - malformacja kory mózgu - szczupły wygląd ORPHA code 251383 OMIM code 300831 ICD10 code Q87.0 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl