Velocardiofacial syndrome (VCFS) is the syndrome most commonly associated with a cleft palate, most usually cleft of the soft palate. A cleft lip may also occur. The incidence of VCFS is approximately 1:2000 of live births, and it occurs in 8% of cleft palate cases1.
VCFS is also known as Shprintzen syndrome after Dr. Robert Shprintzen who first described it in 1978. Though the two terms are often used interchangeably, DiGeorge sequence and VCFS are clinically distinct but overlapping conditions.
The cause
The cause of VCFS is not known, although it is known to be a genetic disorder. Though the gene (or genes) responsible has not been identified, what has been ascertained is that a small part of chromosome 22, known as 22q11, is missing in the vast majority of individuals (approximately 82%)2 who are diagnosed as having VCFS.
Associated conditions
Aside from cleft palate, there are up to 184 other anomalies commonly associated with VCFS, including heart defects, unique facial characteristics (elongated face, almond-shaped eyes, small ears, wide nose), speech and feeding problems, middle ear infections, and learning difficulties. Not all anomalies are present in the child, nor is any one anomaly present in all cases. The features with which the child is born do not get progressively worse over time.
Inherited?
VCFS is an autosomal disorder, which means that only one parent needs to have the gene in order to pass it on to their offspring. In the case of one of the parents having the gene, there is a 50% chance of VCFS being passed on to the offspring. However, only 10-15% of cases are inherited3. There is no difference in the incidence of VCFS between the sexes.
How common is velocardiofacial syndrome?
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.
Joy, I was just going by the cause the Doctors gave my Granma way back in the 40's it wasn't till 1978 the chromosome was id'd so I tend to forget that . So I guess we both might carry that gene then .
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[><] Dixie born and proud of it.
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