Living with CK syndrome
A rare X-linked condition with learning disability, seizures in infancy, a small head, and distinct facial features.
Understanding CK syndrome
Features include mild to severe intellectual disability, seizures starting in infancy, a head that grows slowly after birth, and differences in how the brain's outer layer formed. People have distinct facial features and a thin build. Others may include long, slim fingers and toes, crossed eyes, low muscle tone, stiffness, and behavior problems. GARD lists onset in the newborn period and infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Delayed speech and language
- Behavior differences, such as aggression
- Crossed eyes (strabismus)
- Almond-shaped eyes
- Crowded teeth
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in NSDHL are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the NSDHL gene cause this condition. It is X-linked, which means the gene is on the X chromosome.
Also known as: ck syndrome, x-linked recessive; x-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome; x-linked intellectual disability, microcephaly, cortical malformation, thin habitus syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with CK syndrome.
Explore research for CK syndrome
Explore actively recruiting CK syndrome studies with HealthSpark.
Find actively recruiting studies for CK syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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