CK syndrome

CK syndrome (also known as X-linked intellectual disability-thin habitus-scoliosis-joint hyperextensibility syndrome) is an extremely rare X-linked recessive condition caused by mutations in the NSDHL gene, which encodes an enzyme involved in cholesterol biosynthesis. The syndrome predominantly affects males and is characterized by intellectual disability, a thin body habitus (slender build), tall and slim stature, cortical brain malformations, seizures, and microcephaly. Additional features include facial dysmorphism (long face, prominent forehead, large ears), scoliosis or kyphosis, joint hyperextensibility, and behavioral abnormalities. The condition affects multiple body systems, including the central nervous system (brain malformations, seizures, intellectual disability), the musculoskeletal system (scoliosis, joint laxity, thin habitus), and craniofacial structures. Neurological involvement is a prominent feature, with affected individuals typically demonstrating moderate to severe intellectual disability and speech delay. Some patients may also exhibit behavioral issues such as attention deficit or aggressive behavior. There is currently no cure or disease-specific treatment for CK syndrome. Management is supportive and symptomatic, focusing on seizure control with antiepileptic medications, physical therapy for musculoskeletal issues, speech therapy, and educational support tailored to the individual's cognitive abilities. Genetic counseling is recommended for affected families. The condition was first described in a single Canadian family, and only a very small number of families have been reported in the medical literature.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about CK syndrome