DiGeorge Syndrome
OMIM number: 188400
Comments closing date: 09/02/2026
DiGeorge Syndrome (DGS) results predominantly from the microdeletion of chromosome 22 at a location known as 22q11.2. The main features of DGS include an absent or hypoplastic thymus, cardiac abnormalities, hypocalcaemia, and parathyroid hypoplasia. A complete absence of the thymus, though very rare and affecting less than 1% of patients with DGS, is associated with a form of severe combined immunodeficiency (SCID). Some patients may have a mild to moderate immune deficiency and most patients have cardiac anomalies. Other features include palatal, renal, ocular, gastrointestinal anomalies, skeletal defects, psychiatric disease and developmental delay. DiGeorge syndrome (22q11.2 deletion) is typically a new (de novo) genetic event, with about 90% of cases occurring randomly, not inherited from parents, though it follows autosomal dominant inheritance if it is passed on. If it is inherited as an autosomal dominant condition then there is a 50% chance that it can be passed onto the next generation. There is no cure for this condition. As a result, the quality of life is significantly impacted, requiring lifelong
management and interventions by multiple specialists. Some symptoms can be managed with
surgery such as repairing of congenital heart defects and surgery for cleft lip and palate.
However, there is no cure or treatment for development and learning difficulties associated
with DGS which can be managed using a combination of physical and occupational therapy,
speech therapy and educational support. In some cases low calcium levels can be managed with
lifelong calcium and Vitamin D supplementation and immune deficiency can be managed with
immunologist follow up and proactive infection management.
