Education / Language / Speech Therapy
Velocardiofacial Syndrome (VCFS) / 22q11.2 Deletion Syndrome by Erika Ordonez
Most of us, in one form or another, have heard about Down Syndrome. It is the most common genetic disorder caused by a chromosomal abnormality; however, do you know which genetic disorder comes second?
Velocardiofacial Syndrome (VCFS), also known as 22q11.2 Deletion Syndrome or Digeorge Syndrome, is the second most common chromosomal abnormality that is often under diagnosed.
It wasn’t until graduate school when my professor, Mrs. Altuna, introduced my classmates and me on the unique syndrome. She wanted her students to have the knowledge to appropriately diagnose and provide the most effective therapy to people with VCFS. She said, “ Some of you will be the first speech therapists to notice this disorder and help other professionals become aware of it.” In my case, she was right!
After learning about this unique abnormality I was able help one of my students, who was misdiagnosed to seek the proper plan of care and referral.
Unfortunately VCFS is hard to detect at birth; therefore, the average diagnosis is around 8-10 years of age. Early diagnosis comes because of cardiac defects (Tetralogy of Fallot).
VCFS is characterized by a variety of medical problems. Some of these include:
1. Cleft palate
- Overt Cleft of the Palate
- Submucous Cleft Palate
- Velopharynegal Dysfunction
2. Heart defect
- Acyanotic Heart Disease
- Cyanotic Heart Disease
3. Facial differences
- Wide nasal bridge
- Long face
- Hypotonic upper lip
- Ear differences
- Allergic shiners which is darkness under their eyes and blood vessels close to the skin.
4. Learning disorders or problems
- Delayed receptive and expressive language
- IQ 60-80
- High prevalence ADD/ADHD
5. Speech and feeding problems
- Severe oral motor planning
- Hyper nasal speech
- Disorganized or dysfunctional feeding patterns
6. Psychiatric Symptoms
- Schizophrenia and bipolar disorder is the most common of all psychiatric disorders in VCFS
There are still many Speech-Language Pathologists who do not know about the existence of VCFS. I hope after reading this some of your unanswered questions, regarding your student or child, were clarified.
The following website provides more information, articles and additional resources about VCFS.
VeloCardioFacial Syndrome Educational Foundation