22q13 Deletion Syndrome - MedlinePlus Genetics

22q13.3 deletion syndrome

Phelan-McDermid syndrome, which is also known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome 22. The characteristics of 22q13. 3 deletion syndrome are complex and involved several areas of the body. Poor eye contact, sensitivity to touch, and aggressive behaviors are all typical behaviors that affects communication and social interaction of those people with autism or autistic disorder. People with this condition have seizures or lost skills that they had already acquired Less often, people with this disorder have seizures or lost skills that they never knew. Individuals with the 22q13. 3 deletion syndrome have a reduced sensitivity to pain. Those people with this condition have episodes of frequent vomiting and nausea, as well as backflow of stomach acids into the esophagus. People with 22q13. 3 deletion syndrome have distinct facial features, including a long, narrow head; prominent ears; a pointed chin; droopy eyelids; and deep-set eyes.

Source link: https://medlineplus.gov/genetics/condition/22q133-deletion-syndrome

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