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22q Deletion Syndrome - MedlinePlus Genetics

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Last Updated: 02 July 2022

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22q13.3 deletion syndrome

Phelan-McDermid syndrome, also known as Phelan-McDermid syndrome, is a disorder characterized by the loss of a tiny piece of chromosome 22. The deletion occurs near the end of the chromosome at a site coded q13. 3. The characteristics of 22q13. 3 deletion syndrome can be very varied and involve various areas of the body. Poor eye contact, sensitivity to touch, and aggressive habits are all typical features of autism or autistic-like behaviour that influences communication and social interaction, such as poor eye contact, sensitivity to touch, and aggressive habits. Individuals with the 22q13. 3 deletion syndrome have a reduced sensitivity to pain. Symptoms of frequent vomiting and nausea as well as backflow of stomach acids into the esophagus have been present in some people with this illness. People with 22q13. 3 deletion syndrome have specific facial characteristics, including a long, narrow head; prominent ears; a prominent chin; droopy eyelids; and deep-set eyes.

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