22q11.2 Deletion Syndrome

What Is 22q11.2 Deletion Syndrome?

Chromosomes are thread-like strands of DNA that essentially carry each person’s “blueprint.” During conception, 23 chromosomes from each parent are given, for a total of 46 chromosomes. Each chromosome is identified by a number from 1 through 46. If your child has 22q11.2 deletion syndrome, it means that your child is missing a small piece of chromosome 22. The part that is missing, referred to as a deletion, is known as 22q11.2.

22q11.2 deletion syndrome is a genetic disorder. It is linked to over 180 different health issues, though your child may not have every issue. The most common issues include:
  • Cleft palate
  • Heart defects
  • Facial differences
  • Learning problems
  • Speech problems
  • Feeding or breathing issues
22q11.2 deletion syndrome is also referred to as velocardiofacial syndrome, Shprintzen syndrome, and DiGeorge syndrome.

When a baby is born with a birth defect, it is normal for the parents to feel frightened and overwhelmed. Parents have many questions about the treatment and prognosis. Our focus is to provide your child with compassionate, state-of-the-art care from some of the nation’s top surgeons and specialists while making sure you understand and feel comfortable with every step of the treatment process.

Other health issues include:
  • Tapered fingers or extra toes
  • Issues with the cervical spine
  • Issues with the muscles in the back of the mouth, which can lead to speech problems
  • Issues with cells that fight infection 
At the Yale Craniofacial Program, your child will receive care from some of the top surgeons and specialists in the world. We care deeply about your child’s immediate and future emotional and physical well-being.

Make An Appointment

Yale Craniofacial Program
Pediatric Specialty Center
New Haven, CT 06510

T 203.737.2049 or 203.785.2570 or 203.785.4559

41.2888 -72.92817