CK syndrome

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CK syndrome

Synonyms: X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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CK syndrome?

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Advocacy Organizations

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.