Advanced searches left 3/3

22q11 Deletion Syndrome - MedlinePlus Genetics

Summarized by Plex Scholar
Last Updated: 02 July 2022

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

22q11.2 deletion syndrome

22q11. 2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. 2 Many potential signs and symptoms can be present in virtually every area of the body, including 22q11. 2 deletion syndrome. People with the 22q11. 2 deletion syndrome have heart abnormalities that are often present from birth, chronic infections caused by immune system deficiencies, and facial abnormalities. Even though the tissue covering them does not close completely, the muscles that make the roof of the mouth will not close completely, resulting in a condition called submucosal cleft palate in those affected individuals. The submucosal cleft palate can also interfere with normal speech by causing air to flow out of the nose during speech, contributing to nasal-sounding speech. Affected individuals may also have respiratory difficulties, kidney abnormalities, low calcium levels in the blood, a decrease in blood platelets, significant feeding difficulties, digestive difficulties, and hearing loss are all common symptoms. Some children with the 22q11. 2 deletion syndrome have developmental delays, including delayed growth and speech development, and others have mild intellectual or learning difficulties. Additionally, children with the 22q11. 2 deletion syndrome are more likely than children without this syndrome to have attention-deficit/hyperactivity disorder and developmental disorders that influence communication and social interaction. Because the signs and symptoms of 22q11. 2 deletion syndrome are so varied, several subgroups of features were once thought of as distinct disorders. In addition, several children with the 22q11. 2 deletion were diagnosed with Opitz G/BBB syndrome and Cayler cardiofacial syndrome.

Source link: https://medlineplus.gov/genetics/condition/22q112-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