22q11.2 distal deletion syndrome
22q11.2 distal deletion syndrome is a rare genetic condition caused by a tiny missing part of one of the body's 46 chromosomes – chromosome 22. 22q11.2 distal deletion syndrome appears to be a recurrent genomic disorder distinct from 22q11.2 deletion syndrome also known as DiGeorge syndrome (DGS; 188400) and velocardiofacial syndrome (VCFS; 192430). The first published description of a person with a 22q11.2 distal deletion was in 1999. There have since been hundreds of cases reported worldwide. 22q11.2 distal deletion syndrome seems to occur equally often in males and females. There are reports of people who are unaffected by carrying the deletion and only discovered it after their child was diagnosed. It seems that the 22q11.2 distal deletion can be "silent" and it is unknown how many people may have a silent form of this syndrome. Presentation Every 22q11.2 distal deletion is unique, and each person may have different medical and developmental concerns. A number of common features have emerged: Some children are likely to need support with learning. The amount of support needed by each child will vary Speech is often delayed and some children have articulation problems Growth delay both in the womb and after birth Heart problems