Velo-cardio-facial syndrome (VCFS)

Boston Children’s Hospital provides a wide range of diagnostic, treatment, consultation and advocacy services for children with velo-cardio-facial syndrome (VCFS). Until you meet with our team of doctors in the Cardiac Neurodevelopmental Program, Cardiology Department, Cardiovascular Genetics Program, Developmental Medicine Center, and the Genetics Division, you may find it helpful to read about VCFS provided in the following pages.

How common is VCFS?
Although less well known, VCFS is almost as common as Down syndrome. Current estimates place the incidence of VCFS in the range of 1 in 2,000 to 1 in 4,000 newborns.

Causes

Why does VCFS occur?
Chromosomes are small, threadlike structures composed of thousands of genes and found in every cell of the body. Normal cells contain 46 chromosomes (23 from the mother, 23 from the father), and each chromosome has a specific number. VCFS results from a defect in chromosome 22.

The condition may or may not run in a child’s family. It’s estimated that about 10 to 15 percent of cases are inherited. A parent with VCFS has a 50 percent chance of passing it on to the child.

Signs and symptoms

What are the signs and symptoms of VCFS?

Every child with VCFS can exhibit different combinations of signs and symptoms, with differing degrees of severity. Some babies show signs of the condition at birth and others are diagnosed in a child’s first few years.

The most common symptoms include: 

• Congenital heart defects(CHDs) occur in approximately 85 percent of children with VCFS. The most common CHDs associated with VCFS are ventricular septal defects, right-sided aortic arch and tetralogy of fallot.

• Cleft lip/palateand other palate abnormalities, which may cause speech difficulties 

• Middle ear infections or hearing loss.

• Impaired vision

• Feeding difficulties 

• Low levels of calcium in the blood, due to problems with the parathyroid glands, which can trigger seizures.

• Immune system problems that can increase the risk of infections 

• Kidney abnormalities 

• Spine problems, such as curvature in the spine (scoliosis) and abnormalities in the bones of  the neck or upper back 

• Learning difficulties, especially with visual material

• Developmental delays 

• Communication and social interaction problems, including autism 

• An increased risk for mental illness, such as anxiety, depression or schizophrenia in adulthood 

Facial features of children VCFS may include the following:

• Small ears with squared upper ear
• Hooded eyelids
• Cleft lip and/or palate
• Asymmetric facial appearance when crying
• Small mouth, chin and side areas of the nose tip