What is Velo-Cardio-Facial-Syndrome, and have you heard of it?

Question

Is there any medical students here that have heard of this syndrome in your studies? If so what do you know about it?

VeloCardioFacialSyndrome

Answer 1

Velo-Cardio-Facial syndrome (VCFS) is a genetic, autosomal dominant condition defined by Shprintzen in 1978. Its frequency is estimated at 1 per 4000 live births. In most patients, a deletion on chromosome 22q11.2 is responsible for the syndrome. Most of these deletions occur spontaneously (are not inherited from parent to child).

The features of VCFS include cardiac malformations, cleft palate or velopharyngal insufficiency, a characteristic facial appearance, learning disabilities and more than 40 other physical anomalies

There's no cure but a wide range of therapy and treatments, from heart surgery to educational support, may help to alleviate some of the complications and enable each person to reach their full potential.

The chromosomal deletion can be detected by blood tests. Antenatal diagnosis is possible if there's a known family history, or when ultrasound scans show abnormalities suggesting the condition (such as congenital heart disease and/or cleft palate).

Answer 2

Velocardiofacial syndrome (VCFS) is a disorder that has been associated with over thirty different features. (A disease or disorder that has more than one identifying feature or symptom is a syndrome.) The name velocardiofacial syndrome comes from the Latin words "velum" meaning palate, "cardia" meaning heart and "facies" having to do with the face. Not all of these identifying features are found in each child who is born with VCFS. The most common features are cleft palate (opening in the roof of the mouth), heart defects, characteristic facial appearance, minor learning problems and speech and feeding problems.

Although VCFS is the most common syndrome associated with a cleft palate, it was not recognized until 1978, at which time Dr. Robert J. Shprintzen of the Center for Craniofacial Disorders at the Montefiore Medical Center in Bronx, New York, described 12 children with the disorder. Most or all of these first 12 children were born with a cleft palate, heart defects and similar faces. VCFS may also be known as Shprintzen syndrome, DiGeorge syndrome, Craniofacial syndrome or Conotruncal Anomaly Unusual Face Syndrome.

The cause of VCFS is unknown. What is known is that it is a genetic disorder. This means that there is a problem with one or more of the genes which are found in every cell of the body that contain the instructions that tell cells what to do. Although the gene or genes that cause VCFS have not been identified, most of the children who have been diagnosed with this syndrome are missing a small part of chromosome 22. Chromosomes are threadlike structures found in every cell of the body. Each chromosome contains hundreds of genes. A human cell normally contains 46 chromosomes (23 from each parent). The location or address of the missing segment in individuals with VCFS is 22q11. As a result of this deletion, some of the genes are absent from this chromosome.

Scientists and physicians know that VCFS is an autosomal dominant disorder. This means that only one parent needs to have the gene for VCFS in order to pass it along to their children. When one of the parents has VCFS the chance of their children having the syndrome is 1 in 2 or about 50/50 for each birth. Research has revealed, however, that VCFS is inherited in only about 10 to 15 percent of the cases. In most instances, neither of the parents has the syndrome or carries the defective gene and the cause of the deletion is unknown.

Despite the involvement of a very specific portion of chromosome 22, there is great variation in the features of this syndrome. At least 30 different problems have been associated with the 22q11 deletion. None of these problems occur in all cases. The list includes: cleft palate, usually of the soft palate (the roof of the mouth nearest the throat which is behind the bony palate); heart problems; similar faces (elongated face, almond-shaped eyes, wide nose, small ears); learning difficulties; eye problems; feeding problems that include food coming through the nose (nasal regurgitation) because of the cleft palate; middle-ear infections (otitis media); hypoparathyroidism (low levels of the parathyroid hormone that can result in seizures); immune system problems which make it difficult for the body to fight infections; weak muscles; short height; curvature of the spine (scoliosis); and tapered fingers. Children are born with these features which do not worsen with age.

Cleft palate is the fourth most common birth defect affecting approximately one of every 700 live births. VCFS occurs in approximately 5 to 8 percent of children born with a cleft palate. It is estimated that over 130,000 individuals in the United States have this syndrome.