Common Name(s):
Shprintzen Syndrome, Velocardiofacial Syndrome
Alternative Names & Classifications:
22q11.2 Deletion Syndrome (CLINICAL), DiGeorge Syndrome (CLINICAL)
Description
This syndrome occurs when a small, specific portion of chromosome 22 is deleted during early fetal development. This missing genetic information disrupts the formation of the pharyngeal pouches, leading to defects in the heart, thymus, and parathyroid glands. The severity and exact presentation of the symptoms vary widely even among affected family members.