DISEASES

Disease-gene associations mined from literature

Human genes for velocardiofacial syndrome

Velocardiofacial syndrome [DOID:12583]

22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome (DGS), DiGeorge anomaly, velo-cardio-facial syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome, Strong syndrome, congenital thymic aplasia, and thymic hypoplasia is a syndrome caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2 i.e., on the long arm of one of the pair of chromosomes 22, on region 1, band 1 , sub-band 2. It has a prevalence estimated at 1:4000. The syndrome was described in 1968 by the pediatric endocrinologist Angelo DiGeorge.

Synonyms:  velocardiofacial syndrome,  DOID:12583,  velocardiofacial disease,  velocardiofacial disorder,  Shprintzen syndrome ...

Linkouts:  OMIM