Among its broad spectrum of clinical manifestations, 22q11DS often includes musculoskeletal problems, with orthopaedic and spinal issues, such as scoliosis. These orthopaedic problems can have a significant impact on mobility,…
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ENT and Audiology Issues in 22q11.2 Deletion Syndrome 22q11.2 deletion syndrome (22q11DS), also known as DiGeorge syndrome, may include issues related to the ears, nose, and throat (ENT) as well…
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Cardiovascular Issues in 22q11.2 Deletion Syndrome (22q11DS) 22q11.2 deletion syndrome (22q11DS), the genetic disorder caused by a microdeletion on chromosome 22, presents with a wide range of clinical manifestations, including…
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Dentistry Issues in 22q11.2 Deletion Syndrome Among the health issues associated with 22q11.2 deletion syndrome (aka DiGeorge syndrome), dental problems are frequently observed, and they can significantly impact the quality…
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We are pleased to remind you that the next European conference will take place in Brussels on November 22 and 23, 2025. This conference aims to unite European families, clinicians,…
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The 22q11 European Solidarity Movement was held across Europe on November 22, 2024. As every year, November 22 marked 22q11 Day, a great opportunity to raise awareness among the general…
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22q11.2 deletion syndrome (22q11DS aka DiGeorge syndrome), the genetic disorder caused by the deletion of a small part of chromosome 22, affects multiple systems in the body, including the immune…
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Along with physical symptoms, immune system issues, and developmental delays, mental health issues are prevalent in individuals with 22q11.2 DS and can significantly affect an individual’s quality of life. Early…
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Hello, this is my story with 22q11 syndrome. I was born on 18/08/1991. Around the age of 6, I had learning difficulties in math and comprehension problems, but I didn’t…
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Most children (90%) with 22q deletion experience some degree of developmental disability with delayed speech and language development as the most consistent feature. In formal standardized testing, most school aged…