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Kabuki syndrome is a rare disorder that affects multiple parts of the body. It is present from birth. Specific symptoms and severity can vary. Features often include a characteristic facial appearance; skeletal abnormalities; short stature; heart defects; and intellectual disability.[10585][10586] Other signs and symptoms may include seizures, microcephaly, weak muscle tone (hypotonia), eye problems, cleft palate, and dental problems.[10586] A variety of other health problems may also occur. Kabuki syndrome is most often caused by a mutation in the KMT2D gene, and inherited in an autosomal dominant manner. Some cases are due to a mutation in the KDM6A gene and are inherited in an X-linked dominant manner.[10585] Treatment is focused on the specific signs and symptoms in each affected person.[10587]
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