New publications

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,…

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…

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…

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…

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…

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…

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…

If you haven’t already done so! Here’s a reminder to take part in 22q11 Day as members, local associations or citizens. On November 22nd, we celebrate « 22q11 Day »…

Aria is a 3 year old girl from Faroe Islands. The start of Aria’s life was a difficult time for her. When Aria was born, the nurse heard and saw…

Ana was born as a seemingly healthy child, apart from umbilical hernia she had at the birth, but soon the first problems arose. Because of her failure to thrive we…