Char syndrome is a rare genetic condition that affects how a baby’s face, heart, and hands develop. It’s been found in only a few families worldwide.
People with the condition have distinctive facial features, shortened or missing pinky fingers, and a heart defect called patent ductus arteriosus.
Here’s a closer look at the symptoms, causes, diagnosis, and treatment of Char syndrome.
What Causes Char Syndrome?
It starts with a gene called TFAP2B. This gene tells your body how to make a certain protein that seems to play a role in the normal development of the face, limbs, and heart. Char syndrome happens when the gene goes through certain changes (mutations) before you’re born.
Some people with the disorder inherit the mutated gene from one affected parent. When your parent has Char syndrome, you have a 50% chance of inheriting the gene and getting the disorder, too.
Other people who have no family history of the condition may get it due to a new mutation in the TFAP2B gene.
What Are the Symptoms of Char Syndrome?
The signs affect your face, hands, and heart.
Someone with Char syndrome usually has facial features like:
- Flattened check bones
- Flat nasal bridge (the part of the nose between their eyes)
- Broad, flat tip of the nose
- Wideset eyes with droopy eyelids, and outside corners that slant downward
- Shortened distance between their nose and upper lip
- Triangle-shaped mouth
- Thick, pronounced lips
Their hands look different, too. In most people with the condition, the middle section of the pinky fingers is shortened or missing. There are reports of people who have other hand and foot issues, but those are less common.
Most babies with Char syndrome also have patent ductus arteriosus, a common heart defect in newborns. Ductus arteriosus is a hole between the two major blood vessels that carry blood away from the heart. The connection is a normal part of an unborn baby’s circulatory system, and it’s supposed to close soon after you’re born. If it stays open, doctors call it patent ductus arteriosus.
Without treatment, this heart issue can cause some babies to:
- Breathe quickly
- Feed poorly
- Put on weight slowly
Severe cases can lead to heart failure. Patent ductus arteriosus also makes you more likely to get infections.
How Is Char Syndrome Diagnosed?
If a doctor thinks your baby might have the disorder, they may refer you to a geneticist (a biologist who studies genetics) or a genetic counselor. Genetic tests could confirm the diagnosis by looking for the mutation that causes Char syndrome.
Genetic tests often involve a blood test or taking a sample of hair, skin, or other tissue. A lab then analyzes the sample and tells your doctor or genetic counselor the findings.
After a baby or small child is diagnosed with Char syndrome (and in some cases during diagnosis), the doctor may recommend they get certain medical evaluations:
- Dental exam (after age 3) to check for tooth development problems
- Eye exam to check for crossed eyes (strabismus) and vision problems
- Checkup to spot any signs of hearing loss
- Heart exam to screen for patent ductus arteriosus and other cardiac problems
- Physical exam to check for hand or foot problems
- Checkup to spot any sleep disorders
- Assessment of their head shape and size
If your child has Char syndrome, ask your doctor how often they’ll need these exams as they get older. The doctor may also be able to help you find support in your community or online.
What Are the Treatments for Char Syndrome?
A child with the disorder doesn’t need special care for their facial or hand symptoms. But as they get older, they may be more likely to get bullied or mistreated by other children.
Doctors have several ways to treat the heart defect patent ductus arteriosus (PDA). If your child has Char syndrome, they may recommend one of these options:
Surgery. A surgeon reaches the heart through a small cut between the ribs and repairs the hole with stitches or clips.
Catheter procedure. This can treat older full-term babies, children, and adults. A doctor inserts a thin, flexible tube called a catheter into a blood vessel in the groin and guides it to the heart. They pass a plug or coil through the tube and place it close to the PDA hole.
Watchful waiting. There’s a chance the PDA hole could be small enough to cause no other health problems. If that’s the case, some doctors choose to just watch it closely with tests.