Pallister Killian Mosaic Syndrome

Summarized by Plex Health
Last Updated: 07 May 2022

Pallister-Killian mosaic syndrome is a developmental disorder that impacts many components of the body. Most infants with Pallister-Killian mosaic syndrome are born with substantial hypotonia, which can cause problem breathing and troubles with feeding. Hypotonia also hinders the normal advancement of motor abilities such as sitting, standing, and strolling. About 30 percent of affected people are inevitably able to walk without support. Speech is missing or typically limited in people with this condition. Pallister-Killian mosaic syndrome is linked with unique face appearance that is commonly referred to as "rugged. " Some affected children are born with an opening in the roof of the mouth or a high curved taste. Most children with Pallister-Killian mosaic syndrome have thin hair on their heads, especially around the holy places. Many affected individuals have streaks or spots of skin that are darker or lighter than the surrounding skin. These skin changes can occur anywhere on the body, and they might appear at birth or occur later on in life. Additional features of Pallister-Killian mosaic syndrome can consist of hearing loss, vision impairment, seizures, added nipples, genital problems, and heart defects. About 40 percent of affected infants are born with a congenital diaphragmatic hernia, which is an opening in the muscle mass that separates the abdomen from the upper body cavity. The signs and symptoms of Pallister-Killian mosaic syndrome differ, although most people with this disorder have severe to extensive intellectual disability and other major health issue. One of the most severe cases involve birth issues that are lethal in early infancy.

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