Velocardiofacial Syndrome

Friday, December 11, 2015

Velocardiofacial syndrome is a chromosomal disorder that results in poor development of several body systems. Dr. Edward Hill discusses this condition in todays 60 Second Housecall.

Dr. Hill:

Velocardiofacial syndrome, also called 22q11.2 deletion syndrome, is a disorder caused by a defect in chromosome 22. It results in the poor development of several body systems.

Medical problems commonly associated with this condition include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development with behavioral and emotional problems.

Signs and symptoms may include some combination of the following:

Bluish skin due to poor circulation of oxygen-rich blood as a result of a heart defect

Breathing problems

Twitching or spasms around the mouth, hands, arms or throat

Frequent infections

Certain facial features, such as an underdeveloped chin, low-set ears, wide-set eyes or a narrow groove in the upper lip, and

Speech and developmental delays

Although there is no cure for velocardiofacial syndrome, treatments can usually correct critical problems, such as a heart defect or low calcium levels. Other health issues and developmental, mental health or behavioral problems can be addressed or monitored as needed.

For North Mississippi Medical Center, Im Dr. Edward Hill.