What is 22Q11.2 Deletion Syndrome?22Q11.2
22q Deletion Syndrome, also called Sedlackova Syndrome, Velofacial Sydrome, DiGeorge, VCFS, Shprintzen Syndrome, and several other names, are caused by a micro-deletion of the 22nd chromosome. It is the second most common chromosomal condition, following Down’s Syndrome (Trisomy 22nd). It affects approximately 1 in 992 individuals, (based on recent study) although many go undiagnosed due to having milder presentations. We expect as adequate newborn screening becomes available, the number of individuals diagnosed with 22q11.2 deletion syndrome will drastically increase.
It can affect every major organ in the body, with over 180 different abnormalities. No two individuals present the same way. In fact, identical twins can have vastly different systems.
The most common symptoms are:
· Heart defects
· Cleft palates, including submucous and VPI
· Weakened immune systems
· Feeding difficulties
· Delayed speech
· Developmental delays
· Low calcium levels
22q Deletion Syndrome, also called Sedlackova Syndrome, Velofacial Sydrome, DiGeorge, VCFS, Shprintzen Syndrome, and several other names, are caused by a micro-deletion of the 22nd chromosome. It is the second most common chromosomal condition, following Down’s Syndrome (Trisomy 22nd). It affects approximately 1 in 992 individuals, (based on recent study) although many go undiagnosed due to having milder presentations. We expect as adequate newborn screening becomes available, the number of individuals diagnosed with 22q11.2 deletion syndrome will drastically increase.
It can affect every major organ in the body, with over 180 different abnormalities. No two individuals present the same way. In fact, identical twins can have vastly different systems.
The most common symptoms are:
· Heart defects
· Cleft palates, including submucous and VPI
· Weakened immune systems
· Feeding difficulties
· Delayed speech
· Developmental delays
· Low calcium levels
