What Is Velocardiofacial Syndrome?
Velocardiofacial syndrome is a genetic disorder linked with more than 150 different identifying features.
The name velocardiofacial syndrome comes from the Latin term velum (palate), cardia (heart) and facies (having to do with the face). A syndrome is a disease or disorder that has more than one identifying feature or symptom.
The most common features of velocardiofacial syndrome are cleft palate (an opening in the roof of the mouth), heart defects, characteristic facial appearance, learning problems and speech and feeding problems. Not all of these identifying features are found in every child born with velocardiofacial syndrome.
Though the gene or genes responsible have not been identified, a small part of chromosome 22, known as 22q11.2, is missing in the majority of people with velocardiofacial syndrome.
Chromosomes are threadlike structures found in every cell of the body. Each chromosome contains thousands of genes. A human cell normally contains 46 chromosomes (23 from each parent).
Velocardiofacial syndrome was recognized by Dr. Robert J. Shprintzen of the Center for Craniofacial Disorders at the Montefiore Medical Center in Bronx, New York in 1978. He described 12 children with the disorder.
Most or all of these 12 children were born with cleft palate, heart defects and similar faces.
Velocardiofacial syndrome may also be known as Shprintzen syndrome, DiGeorge syndrome, craniofacial syndrome, conotruncal anomaly unusual face syndrome or 22q11.2 deletion syndrome.
Velocardiofacial Syndrome in Children
The syndrome occurs in one of 4,000 newborns. For most babies, this is a new genetic change that was not inherited from their mother or father. For 10% of children, the genetic change or the defect in chromosome 22 was passed on from the child's mother or father.
Velocardiofacial syndrome is an autosomal dominant condition, meaning that only one parent needs to have an abnormal gene for the child to inherit the disease. Only one parent needs to have an abnormal gene for the child to inherit the disease.
A person with 22q11.2 syndrome has a 50% chance for each pregnancy of passing the mutation on to the child.
Velocardiofacial Syndrome at Seattle Children’s
Our craniofacial team has a great deal of experience treating children with 22q11.2 deletion syndrome. Over the past five years, we have treated 58 children with this syndrome.
Each year 15 to 20 children come to our Center for treatment for the first time. Each year we perform an average of 10 surgeries for this condition.
In 2006 we established a clinic (22q clinic) specifically for the diagnosis and management of this condition.