Also known as: VCFS, velocardiofacial syndrome, chromosome 22q11.2 deletion syndrome, 22q11.2 deletion syndrome, Shprintzen syndrome, craniofacial syndrome, DiGeorge syndrome, conotruncal anomaly face syndrome.
What is velo-cardio facial syndrome?
“Velo” in Latin means palate, “cardia” means heart, and “facies” relates to things of the face. Velo-cardio facial syndrome has a number of common features including a cleft palate, heart abnormalities, and a characteristic looking face, and many others.
What causes velo-cardio facial syndrome?
While the exact cause is unknown, many children with VCFS have a missing portion of chromosome 22. In some families (10-15%) the condition may be inherited; mostly however is occurs as a “sporadic mutation” without coming from either parent.
What are the signs/symptoms of velo-cardio facial syndrome?
A wide variety of signs/symptoms are related to velo-cardio facial syndrome (and not all may occur in a single child). Some of them include:
- Long face with prominent upper jaw
- Low set ears
- Down slanting mouth
- Cleft palate
- Rheumatoid arthritis
- Heart, immune, endocrine system and nervous system abnormalities
- Feeding difficulties
- Hearing loss
- Developmental delays with learning and behavioral problems
What are velo-cardio facial syndrome care options?
Depending on the system/s involved, a number of therapists are involved in helping patients with the disorder live the most fulfilling life possible. Your Nicklaus Children’s Hospital pediatric specialist team will discuss with you all the various treatment options and help and guide you so that your child can achieve his/her maximal potential.
Reviewed by: Jack Wolfsdorf, MD, FAAP
This page was last updated on: 6/12/2018 2:57:07 PM
From the Newsdesk
Naialee Perez had just given birth to her first child, a baby boy named Liam, when a category five hurricane was making its way towards her hometown in the island of Puerto Rico. Liam was on a ventilator and undergoing treatment for a congenital heart defect in Hospital del Niño in San Juan while those on the island prepared for what would become one of the most catastrophic hurricanes in its history.
While he was still inside his mother’s womb, Luife was diagnosed with transposition of the great arteries, a congenital heart defect. Shortly after birth, Luife was taken by ambulance to the cardiac team at Nicklaus Children’s. The pediatric cardiology team took Luife’s heart apart, piece by delicate piece, and successfully, put it back together. Today, Luife is a healthy, active and outgoing 8-year-old boy who wears his “Scar of Honor” with pride.