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22q11 Deletion Syndrome - MedlinePlus Genetics

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Last Updated: 27 October 2022

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22q11.2 deletion syndrome

22q11. 2 deletion syndrome is a condition caused by the deletion of a small piece of chromosome 22. 22q11. 2 deletion syndrome has numerous potential signs and symptoms that may influence virtually every area of the body. People with the 22q11. 2 deletion syndrome have heart abnormalities that are often related to birth, recurrent infections caused by immune system dysfunction, and distinctive facial features. Even though the skin covering them does, the muscles that make up the roof of the mouth do not close completely, resulting in a condition called submucosal cleft palate in those affected individuals. Submucosal cleft palate can also interfere with normal speech by causing air to flow out of the nose during speech, resulting in nasal-sounding speech. Patients affected by asthma, kidney abnormalities, low calcium in the blood, a decrease in blood platelets, severe feeding difficulties, gastrointestinal problems, and hearing loss may also be present. Many children with 22q11. 2 deletion syndrome have developmental delays, including delayed growth and speech development, and some have mild intellectual impairment or learning difficulties, as well as autism. In addition, affected children with 22q11. 2 deletion syndrome are more likely than children without this syndrome to have attention-deficit/hyperactivity disorder and autism spectrum disorders that influence communication and social interaction. Since the signs and symptoms of 22q11. 2 deletion syndrome are so numerous, various groups of features were once characterized as separate 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