We propose that DiGeorge syndrome should be seen as the severe end of the clinical spectrum embraced by the acronym CATCH 22 syndrome; Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia resulting from 22q11 deletions.

DiGeorge syndrome can cause a range of problems, but most people will not have all of these. Some of the most common issues are: learning and behaviour problems – including delays in learning to walk or talk, learning disabilities and problems such as attention deficit hyperactivity disorder (ADHD) or autism.

Differential Diagnosis The following conditions present with overlapping features: Smith-Lemli-Opitz syndrome - (polydactyly and cleft palate are common findings). Oculo-auriculo vertebral (Goldenhar) syndrome (OAVS) - (ear anomalies, heart disease, vertebral defects, and renal anomalies are present).

DiGeorge syndrome, also known as 22q11. 2 deletion syndrome, is a condition caused when a small part of chromosome 22 is missing. This deletion causes several body systems to develop poorly.