What is Barber Say syndrome?

Barber Say syndrome — sometimes written as Barber-Say Syndrome — is an extremely rare genetic condition. The disease is present from birth (congenital) and causes malformations of your newborn’s body. It mainly affects their external characteristics, especially their face. Their internal organs and cognition are typically unaffected. The specific features and the severity of your baby’s condition may vary. Your baby may have:

Distinctive facial features.

• Excessive hair growth (hypertrichosis).
• Papery thin, fragile (atrophic) skin.

Who does Barber Say syndrome affect?

Barber Say syndrome is a genetic condition that can affect anyone.

How common is Barber Say syndrome?

Barber Say syndrome is an exceptionally rare genetic condition. It occurs in less than 1 in 1,000,000 births around the world. Scientists believe between 1 and 300 people are living with the disease in the United States.

What are the symptoms of Barber Say syndrome?

The symptoms of Barber Say syndrome are present at birth (congenital). The specific signs and symptoms your baby has may vary. The severity of your baby’s symptoms can vary as well. Barber Say syndrome can cause distinctive facial characteristics. These facial abnormalities may include:

• Missing or underdeveloped eyebrows.
• Widely spaced eyes.
• Missing eyelashes.
• Outwardly turned eyelids.
• Wider than normal distance in the corners of your baby’s eyes (where their upper and lower eyelids meet).
• Upturned nose.
• Large, rounded nose.
• Wide nasal bridge.
• Wide mouth.
• Late tooth eruption.

Other signs and symptoms of the disease may include:

• Abnormal, excessive hair growth (hypertrichosis) over much of your baby’s body.
• Loose, sagging skin that can stretch beyond normal and then go back to its original position (hyperextensible skin).
• Hearing impairment.
• Missing breast tissue.
• Underdeveloped nipples.
• Failure to thrive.

What causes Barber Say syndrome?

A genetic change or variant (mutation) in the TWIST2 gene causes Barber-Say syndrome. This gene encodes a protein involved in bone cell development. A mutation in this gene causes the unique characteristics common to this disorder.

Since Barber Say syndrome is so rare, there’s limited research on its method of inheritance. Most cases have shown that one parent passing a mutated gene on to their child is enough to cause the disorder. This is called an autosomal dominant pattern.

However, inheritance may be in an autosomal recessive pattern. This means your child can only inherit the condition if both parents pass on a copy of the mutated gene. Still other cases develop as a result of a new mutation (de novo) in the TWIST2 gene. This means it occurs for the first time in people with no biological family history of the disorder.

How is Barber Say syndrome diagnosed?

Your child’s healthcare provider will perform a physical examination. They’ll look for specific signs and symptoms of the condition. They’ll look for distinctive facial characteristics, excessive hair growth and thin, sagging skin. They’ll also ask about your child’s biological family history.

To confirm a diagnosis, your child’s provider will request a genetic test. To perform the test, they’ll remove a small sample of your child’s blood to look for genetic changes. They’ll look for a mutation in the TWIST2 gene.

How is Barber Say syndrome treated?

There’s no cure for Barber Say syndrome. Treatment for the condition is unique for each child based on their specific symptoms. Your baby’s pediatrician will work with a team of specialists that may include:

• An ophthalmologist: A doctor who specializes in diagnosing and treating eye and vision conditions.
• A dermatologist: A doctor who specializes in diagnosing and treating skin, hair and nail diseases.
• A genetic counselor: A healthcare provider that helps you understand your risks of passing on or inheriting a genetic condition.

Treatment options may include a number of different types of plastic surgery to correct abnormalities. Many people see a remarkable difference before and after surgery for Barber Say syndrome. Surgeries may include:

• Face, mouth or jaw dental surgery (maxillofacial surgery).
• Facial plastic surgery, including cheek implants (malar implants).
• Eyelid surgeries (blepharoplasty or tarsorrhaphy).
• Nose (nasal) reconstruction (rhinoplasty).
• Lip surgery (cheiloplasty).
• Corrective jaw surgery (orthognathic surgery).
• Chin surgery (genioplasty).
• Breast surgery (breast augmentation), which would occur after puberty.

Other treatment options may include:

• Laser therapy for hypertrichosis.
• Artificial tears, eye lubricants and antibiotics for further eye issues.

How can I prevent Barber Say syndrome?

You can’t prevent Barber Say syndrome because it’s a genetic condition. If you’re planning on becoming pregnant, talk with your healthcare provider about genetic testing. Genetic testing can help you understand your risk of passing certain genes onto your child.

What is the Barber Say syndrome life expectancy?

The life expectancy for a person with Barber Say syndrome is normal. Although your child may have significant physical malformations to correct, the disease shouldn’t affect their internal organs and cognition. Your child will have normal motor and speech development. However, the symptoms and severity of your child’s condition will ultimately determine their long-term outcomes. Ask your child’s healthcare provider about their specific life expectancy.

What questions should I ask my child’s healthcare provider?

• How rare is my child’s condition?
• How serious are my child’s symptoms?
• What type of treatment does my child need?
• What kind of surgeries will my child need?
• What is my child’s life expectancy?

A note from Cleveland Clinic

Becoming a parent for the first time can be a nerve-wracking experience. But if your baby is born with a rare genetic condition, it goes even further. If your baby has Barber Say syndrome, you may want to consider joining a support group for families of children with rare diseases. A support group can be a helpful resource to help answer your questions and provide hope for your child’s condition. Keep in mind, while your child may have physical differences, their cognition should be normal. Your child should be able to go on to lead a normal, productive life.