Velo-cardio facial syndrome
Name(s):
Velocardiofacial syndrome
Shprintzen syndrome
DiGeorge syndrome
Craniofacial syndrome
Conotruncal anomaly unusual face syndrome
Nature
Velocardiofacial syndrome (VCFS), also known as Shprintzen syndrome, is one of the most common genetic disorders in humans. It is caused by a deletion of a small segment of chromosome 22. Velocardiofacial syndrome has been associated with over thirty different features. The name velocardiofacial syndrome comes from the Latin words "velum" meaning palate, "cardia" meaning heart and "facies" having to do with the face. Not all of these identifying features are found in each child who is born with VCFS. The most common features are cleft palate (opening in the roof of the mouth), heart defects, characteristic facial appearance, minor learning problems and speech and feeding problems.
Background
Velocardiofacial syndrome is an autosomal dominant disorder. This means that only one parent needs to have the gene for VCFS in order to pass it along to their children. When one of the parents has VCFS the chance of their children having the syndrome is 1 in 2 or about 50/50 for each birth. Research has revealed, however, that VCFS is inherited in only about 10 to 15 percent of the cases. In most instances, neither of the parents has the syndrome or carries the defective gene and the cause of the deletion is unknown.
Broader
Type
(G) Very specific problems