22q11.2 Deletion Syndrome Clinic
The 22q11.2 Deletion Syndrome Clinic is a new program offered through the Institute on Development & Disability (IDD) Cleft Palate & Craniofacial Program. The program, which is currently developing, now offers same-day coordinated consultation offerings with:
- Pediatric Nurse Practitioner
- Social Work Family Needs Assessment
- Psychology with Noon-time Parent Gathering
- Speech Pathology, Velopharyngeal Assessment, Feeding & Swallowing
- Otolaryngology/Head-Neck Surgery
- Craniofacial Surgery
- Craniofacial Orthodontics
- Infectious Disease
Referrals for other recommended evaluations available with:
QUESTIONS? Please contact:
Maureen Oliverio, CPNP at: 503 494-2069
What is 22q11.2 Deletion syndrome?
22q11.2 Deletion syndrome is the most common genetic syndrome associated with cleft palate alone (without a cleft lip). This syndrome has several other names, including velocardiofacial syndrome, DiGeorge syndrome, and Shprintzen syndrome. Individuals with this syndrome are missing a very small amount of DNA on the 22nd chromosome. Numerous features can be associated with this syndrome. Not all children will have every feature of 22q11.2 Deletion syndrome, and not all will have a cleft palate.
22q11.2 Deletion syndrome occurs in about 1:2000 - 1:4000 newborns. About 10% of the time, the mutation was inherited from a parent who may or may not know they carry the mutation. Most of the time, however, this is a new mutation. This is a dominant genetic condition, which means that someone who carries this mutation has a 50% chance of passing it on to his or her offspring.
Symptoms of 22q11.2 Deletion syndrome
There are a large number of problems that can be associated with 22q11.2 Deletion syndrome, and the presentation can be quite variable. Most children will have either a cleft palate or a palate that does not function well. This can cause feeding problems during the newborn period, difficulty with speech, and accumulation of fluid behind the eardrum that may lead to recurrent ear infections or hearing loss. Many children with 22q11.2 Deletion syndrome have congenital heart defects, some of which may require surgery to repair. Some children will have differences in their immune systems and may have frequent infections during childhood. Many children will also have learning disabilities (which can range from quite mild to more severe) and some will have psychiatric disorders when they are older.
Diagnosis of 22q11.2 Deletion syndrome
22q11.2 Deletion syndrome can be diagnosed with a genetic test, usually an array comparative genomic hybridization (array CGH). In addition, several screening tests will be done in children with suspected or confirmed 22q11.2 Deletion syndrome. Children with 22q11.2 Deletion syndrome should be screened for heart abnormalities, problems with calcium regulation, developmental delays, hearing loss, and immune deficiency, among other things.
Treatment of 22q11.2 Deletion syndrome
Our multidisciplinary craniofacial team has expertise and a great deal of experience taking care of children with 22q11.2 Deletion syndrome. We work closely with members on our team, as well as physicians from other subspecialties that may be involved in the care of your child. We will try to coordinate your care so you can see as many providers as are needed in as few visits as possible. We will help make sure your child has the recommended screening tests, as well as access to the right subspecialists to provide the services your child needs.