When a fetus inherits a mutated copy of the TFAP2B gene, the development of the heart, face and arms and legs is affected.
As a result, when the infant is born, he or she will have a very distinct facial appearance, a defect in the heart known as patent ductus ateriosus, or PDA, and deformities of the hands.
The disorder is known as Char syndrome and it’s so rare that only a few patients have been identified, worldwide.
PDA is caused by the failure of a temporary blood vessel called the ductus arteriosus to close. This blood vessel connects the main vessel leading to the pulmonary artery to the aorta. Infants with PDA typically have what is known as a “heart murmur.”
It occurs in approximately 10% of newborns regardless of whether Char syndrome is present or not.
Char syndrome is an autosomal dominant trait which means only one parent needs to carry the mutated TFAP2B gene. There is no treatment for the disorder, itself. The main medical intervention usually focuses on treating the cardiovasculardefects.
Because of its rarity, there is not much that is known about Char syndrome, but if you, or someone you love is affected by this genetic condition, the following resources may be of help.
- National Institutes for Health
- Orphanet – Char Syndrome
- Genetics Testing Registry
- Congenital Heart Information Network
