Conditions We Treat
22q11.2 deletion syndrome is a genetic disorder in which a piece of chromosome 22 is missing. This can cause many medical problems, including emotional challenges, cleft palate , hormone deficiencies, immune problems, heart defects and developmental delays. Therefore, the syndrome may be associated with a variety of symptoms and conditions. That is why it is crucial that your child receives the exceptionally personalized care found at Phoenix Children's.
The signs and symptoms of 22q11.2 deletion syndrome can vary from one affected person to another. For that reason, several disorders and collections of symptoms caused by this syndrome have had other names in the past. These names, some of which are still used occasionally, include:
- DiGeorge syndrome
- Velocardiofacial syndrome (VCFS)
- Shprintzen syndrome
- Conotruncal anomaly face syndrome (CTAF)
- Sedlackova syndrome
In addition, some children with the syndrome were previously diagnosed with Opitz G/BBB syndrome or Cayler cardiofacial syndrome. Doctors now understand that these disorders all share the same genetic cause as 22q11.2 deletion syndrome.