Advanced searches left 3/3

22q Deletion Syndrome - MedlinePlus Genetics

Summarized by Plex Scholar
Last Updated: 27 October 2022

* If you want to update the article please login/register

22q13.3 deletion syndrome

Phelan-McDermid syndrome, also known as Phelan-McDermid syndrome, is a disorder caused by the loss of a tiny piece of chromosome 22. The characteristics of 22q13. 3 deletion syndrome vary widely and cover various regions of the body. Poor eye contact, sensitivity to touch, and aggressive behaviour are all typical of autism or autistic-like behaviors that influence communication and social interaction. People with this illness have seizures or lose skills that they had already acquired less often. Individuals with a 22q13. 3 deletion syndrome have a reduced sensitivity to pain. Some people with this disorder have episodes of frequent vomiting and nausea, as well as backflow of stomach acids into the esophagus. People with 22q13. 3 deletion syndrome have distinctive facial features, such as a long, narrow head; prominent ears; a prominent chin; droopy eyelids; and deep-set eyes. Some of the affected individuals are seeing rapid growth.

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

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions