What is Kabuki syndrome (KS)?
Kabuki syndrome, another rare developmental disorder, is caused by inactivating mutations in MLL4 or UTX gene. KS affects many parts of the body. These include distinctive facial features, which look similar to the Japanese theatrical Kabuki mask and thus named such, mild to severe developmental delay and intellectual disability, seizures, an unusually small head size, weak muscle tone, eye problems, short stature, skeletal abnormalities, short fifth fingers, problems with the hip and knee joints, cleft palate, dental problems, fetal fingerpads, and many other deficits such as frequent ear infections, hearing loss, and early puberty. Some KS patients also belong to autism spectrum disorder although the autistic feature with KS is much more variable than other autism spectrum disorders.
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