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, described twelve children with the disorder. VCFS may also be known as Shprintzen Syndrome, DiGeorge Syndrome, Craniofacial Syndrome or Conotruncal Anomaly Unusual Face Syndrome.
The name velocardiofacial comes from the Latin words "velum" meaning palate, "cardia" meaning heart, and "facies" having to do with the face. In 2004, The U.S. Census Bureau Population Estimates revealed that VCFS is the fourth most common birth defect and occurs in 1 out of every 700 live births. Currently, 1 in every 2,000 people is said to have the disorder. In addition, there are over 130,000 individuals with this syndrome in the United States alone.
The most common features of VCFS are cleft palate, heart defects, abnormalities of the head and facial (craniofacial) area, minor learning problems and speech and feeding problems.
Nearly All Children with VCFS Have Some Form of Learning Disability
VCFS is said to be an autosomal dominant disorder, which means that only one parent needs to have the gene to pass it along to his children. When one of the parents has VCFS, the chance of the children having the syndrome is about 50/50 for each birth (The U.S. Census Bureau Population Estimates).
In a October 30th 1993 J Med Genetics article entitled“An Historical Review of Clinical and Cytogenetic Features” F. Greenberg explains thatVCFS is inherited in only about 10 to 15 percent of the cases. For that reason, neither parent has the syndrome or carries the defective gene and the cause of the deletion is unknown.
Almost all children with VCFS have some form of learning disability which typically becomes obvious by ages 7 or 8 years. They tend to do the poorest with abstraction and problem solving skills often used with mathematics and reading comprehension. They do well, however, with letter recognition and sounding out words.
Speech delays are also common, with the average onset of the first word at 19 months. Fortunately, however, the same developmental spurts found in motor development also occur in speech and language.
Developmental Delay is Common in Children with VCFS
As a result of this type of learning disability, students will have relative strengths in reading and rote memorization but will struggle with math and abstract reasoning. These individuals may also have communication and social interaction problems such as autism. As adults, these individuals have an increased risk for developing mental illness such as depression, anxiety and schizophrenia (Greenberg).
Developmental delay is commonly found in children with VCFS. Statistics show that the average age for walking is 15 to 16 months of age. The large majority of children tend to go through several spurts of motor development, especially between the ages of 3 and 4 years (The U.S. Census Bureau Population Estimates).
By school age, the majority of children will perform close to the normal range in terms of motor skills, although they may always be a bit more hypotonic.
Since it is common for children with the syndrome to have a cleft palate, which can cause difficulties with speech and swallowing, corrective surgery may be needed. Many children have speech and language difficulties, so speech therapy will be especially helpful. Physical therapy and occupational therapy may be helpful as most children tend to have low muscle tone.
Low calcium levels can be treated with a calcium supplement. However, if the problem continues, the child may need to be seen by an endocrinologist. For those with palatal problems, ear infections may be common, and the child may benefit from working with an ear, nose, and throat (ENT) specialist.
There is no cure for VCFS, therefore, the treatment program involves managing the child’s symptoms. Symptoms of VCFS vary from person to person and do not get progressively worse with age.
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