CK syndrome

Orpha code: 251383OMIM code: 300831

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
-

No additional description.

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