Saturday, February 16, 2013

Velo-Cardio-Facial Syndrome, DiGeorge Syndrome, or Shprintzen Syndrome?

Velo-cardio-facial syndrome (VCFS) is a form of genetic condition that is related to DiGeorge syndrome and involves a similar chromosome abnormality as DiGeorge syndrome. VCFS has varying conditions present in each person with the syndrome. Conditions that are common to the syndrome include effects on a person's facial appearance, certain heart defects, as well as a lock of or under-developed parathyroid and thymus glands. DiGeorge syndrome presents the same clinical features as VCFS, although a person must have immune system deficiencies associated with a lack of a thymus gland to be considered to have true DiGeorge syndrome.


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