CASK-Related Disorders

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Disease Overview

CASK-related disorders are a group of genetic disorders that affect brain development. The two main related disorders include microcephaly with pontine and cerebellar hypoplasia (MICPCH) and X-linked intellectual disability (XL-ID) with or without nystagmus. Males with these disorders usually have more severe symptoms than females. The signs and symptoms may include: autism spectrum disorders, intellectual disability, epilepsy disorders, seizures, a small head size (microcephaly) with specific brain findings (pontine and cerebellar hypoplasia), delayed growth, vision and hearing issues, and low muscle tone (hypotonia).[13211][13212]

CASK-related disorders are caused by mutations in the CASK gene and are inherited in an X-linked manner.[13211] Some researchers have suggested that a condition called FG syndrome 4 may also be caused by mutations in the CASK gene, but it seems that the only family described with this syndrome may have actually had XL-ID, with or without nystagmus.[13213][13212] Treatment is focused on alleviating symptoms and may include medication to control seizures, nutritional support, hearing and vision aids, and physical therapy. The best management usually requires a team of specialists.[13211]



For more information, visit GARD.

National Organization for Rare Disorders