Velocardiofacial syndrome (VCFS) is a genetic disorder that affects the brain and body. It can cause mild to severe medical problems, such as heart defects, hearing loss, cleft lip or palate, developmental delays, and learning disabilities.
The disorder is caused by changes in chromosome 22 (one of the 23 pairs of chromosomes found in each cell), which is called a deletion. This means that part of the chromosome has been deleted, and some genes are missing. When this happens, genes that control important functions may not work properly.
There are many risk factors for the velocardiofacial syndrome, such as:
- Genetic inheritance from parents
- Familial history of cardiac defects or cleft lip and palate
- Low birth weight
- Exposure to teratogenic drugs during pregnancy
- Maternal rubella (German measles) infection in the first trimester of pregnancy
- Exposure to valproic acid, carbamazepine, phenobarbital, or phenytoin (anticonvulsants) in the first trimester of pregnancy
- Exposure to thalidomide during pregnancy
- Having a family history of VCFS
- Being born to older parents
- Having other genetic conditions like Down syndrome or DiGeorge syndrome
Hypertelorism (wide-set eyes),Low set ears,Hearing loss (either mild or severe),Cardiac defects, such as Tetralogy of Fallot or Atrial septal defect (ASD),Abnormalities of the teeth (overbites, underbites, crowded teeth)
Chromosomal abnormalities, such as trisomy 21 (Down syndrome) and trisomy 18 (Edwards syndrome),Mutation in the gene for POR1, which is responsible for the production of the enzyme prolyl oligopeptidase,A mutation in the SHH (Sonic hedgehog) gene, which is responsible for producing sonic hedgehog protein,Abnormalities in genes involved in the production of collagen and fibronectin proteins