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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
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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.
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.