What is Char syndrome?
Char syndrome affects how the face, heart, and limbs develop. People living with Char syndrome have distinguishing facial features, a heart abnormality known as patent ductus arteriosus, and hand anomalies.
Someone with Char syndrome might have a flatter than normal nose tip and nasal bridge, as well as flatter cheekbones. The eyes will be set apart and turn downwards, giving the person a “droopy” look (ptosis). As for the mouth, it will take the shape of a triangle, and the lips will be thicker average.
Char syndrome is extremely rare; only a few cases have been discovered worldwide.
What causes Char syndrome?
Char syndrome develops due to the mutation of the TFAP2B gene. This gene aids in the development of a protein that participates in the formation of the face, heart, and limbs. While Char syndrome can be inherited, there have also been spontaneous cases, meaning neither parent had the gene mutation.
How is Char syndrome diagnosed?
A clinical diagnosis of Char syndrome might be preceded by any of the following symptoms:
- Abnormally flat/broad facial features
- Heart abnormalities
- Organ failure
- Hypoplasia (underdevelopment) of the fingers
Char syndrome may also be diagnosed by genetic testing.
Can Char syndrome be treated?
At this time, there is no treatment for Char syndrome. Instead, doctors will recommend palliative care and surveillance, specifically during childhood.