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What is 22q11.2 Deletion Syndrome?

22q11.2 Deletion Syndrome (also known as Velocardiofacial Syndrome) describes a variety of conditions that occur as the result of a missing segment of a specific chromosome (chromosome 22). This is a very rare occurrence—approximately 1 in 2,000-5,000 children are born with 22q deletions.

22q11.2 Deletion Syndrome is characterized by various physical characteristics and health conditions. These characteristics vary widely among individuals with this syndrome, but often include:

  • Long face with a prominent upper jaw
  • Flattening of the cheeks
  • Underdeveloped lower jaw
  • Bluish color below the eyes
  • Prominent nose with narrow nasal passages
  • Long thin upper lip and a down-slanting mouth
  • Cleft palate or submucous cleft palate

Causes of 22q11.2 Deletion Syndrome

There are no known causes or risk factors for 22q11.2 Deletion Syndrome. It can be an inherited condition—a person with the condition has a 50% chance of passing this down to his or her children. More commonly, though, it is a completely random occurrence.

Health Risks of 22q11.2 Deletion Syndrome

Besides the physical characteristics, other health risks are also associated with 22q11.2 Deletion Syndrome. As many as 30 different problems have been associated with this syndrome. Conditions and their severity vary from patient to patient. These conditions can include:

  • Heart problems
  • Developmental delays or learning disabilities
  • Vision problems
  • Ear Infections that may lead to hearing loss
  • Hypoparathyroidism (decreased function of the parathyroid glands)
  • Immune system problems
  • Short stature
  • Scoliosis

Treatment for 22q11.2 Deletion Syndrome

Due to the broad spectrum of conditions associated with 22q11.2 Deletion Syndrome, we recommend that your child see the team of specialists associated with the Pediatric Cleft and Craniofacial Center for a complete evaluation. After a complete evaluation, we will work with you, your child, and your pediatrician to develop a treatment plan especially tailored to your child. We find that this team approach provides the best, most complete care for each patient.

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