Also known as 22q11.2 deletion syndrome or Di George Syndrome, Velocardiofacial Syndrome is one of the most common genetic disorders, affecting 1 in 2,000 births, but only 30 % of cases are diagnosed at birth. It is because the syndrome includes a large number of symptoms affecting various parts of the body, and none of those features occur in 100 % of individuals, therefore, the diagnosis becomes difficult.
The diagnosis can be made by genetic testing (FISH). Inheritance of VCFS is autosomal dominant, which means that when a parent has the deletion, they have a 50 % chance of passing it on to each offspring. However, most cases are caused by new mutations, meaning that neither parent has the deletion.
The list of possible signs and symptoms include:
• Clef palate
• Congenital Heart Disease
• Facial anomalies, such as long face, small ears, wide nose.
• Feeding problems
• Eye anomalies
• Immune system problems, causing frequent infections
• Low parathyroid hormone
• Curvature of the spine (scoliosis)
• Weak muscles
• Poor growth
• Renal anomalies
• Hearing loss
Early identification is the key to prompt treatment and management of possible complications. Some of these children may have learning disabilities, autism spectrum disorder, anxiety and attention deficit.
For further information about Velocadiofacial Syndrome we provide web sites and phone numbers helpful for families:
• VCFS Educational Foundation: 1-866-VCFSEF5
• Support for families in the Austin Area: 512-332-0368/ 512-304-3255
• International 22q11.2 Deletion Syndrome Foundation: www.22q.org