What Is Barber Say Syndrome? Symptoms, Causes, and Treatment
Updated: 2 days ago
Medically reviewed by Dr. Baraa Alnahhal, MD · Last reviewed: October 2026
Quick Answer: What is Barber Say syndrome?
Barber Say syndrome is an exceptionally rare genetic disorder, occurring in less than 1 in 1,000,000 births, with signs present at birth. [1] Features include missing eyebrows and eyelashes, widely spaced eyes, excessive body hair and loose, sagging skin. [1] It is diagnosed with a TWIST2 gene test. [1] There is no cure, but surgery helps, and life expectancy is unaffected. [1]
Key takeaways
Barber Say syndrome is an extremely rare genetic condition present from birth, affecting fewer than 1 in 1,000,000 babies worldwide. [1]
It mainly affects external characteristics, especially the face, plus hair growth and skin, not internal organs or intelligence. [1]
A mutation in the TWIST2 gene (involved in bone cell development) causes the condition. [1]
Inheritance is usually autosomal dominant, but recessive and new (de novo) mutations also occur. [1]
There's no cure: care is tailored to each child, often involving a team of specialists and corrective surgeries. [1]
Children have normal motor and speech development, and life expectancy is normal. [1]
Support groups for families of children with rare diseases can provide answers and hope.
What the research says
Most cases trace back to new changes in a single gene, TWIST2. In a genetic study of rare facial ectodermal dysplasias, researchers found a recurrent new (de novo) TWIST2 mutation in 10 unrelated families with Barber-Say syndrome and another at the same amino acid in 7 families with the related ablepharon-macrostomia syndrome. Which amino acid replaced residue 75 decided the syndrome: lysine produced ablepharon-macrostomia, while glutamine or alanine produced Barber-Say. (Marchegiani et al., Am J Hum Genet, 2015) [3]
The condition is so rare that only a handful of cases are firmly confirmed. A critical review of all published reports kept just 16 reliably diagnosed people with Barber-Say syndrome (and 16 with ablepharon-macrostomia syndrome). In Barber-Say syndrome, general hypertrichosis occurs, and the shared facial features include widely spaced eyes, outwardly turned eyelids, a wide mouth, and sparse eyebrows and eyelashes. The authors suggest the related TWIST2 syndromes may form a continuum. (De Maria et al., Am J Med Genet A, 2016) [4]
Eyelid surgery is complex, but case reports show it can resolve eye problems. Around 20 cases of Barber-Say syndrome had been reported, and fewer than half described the surgical technique, which the authors call a surgical challenge. In one newborn, a team combined lateral tarsorrhaphy with skin grafts and fat grafts for eyelid reconstruction, and in another child with exposure keratitis, eyelid surgery resolved her signs and symptoms. Both are single case reports, so results may vary. (Barreiro-González et al., Arch Soc Esp Oftalmol, 2019 [5]; Zuazo et al., Ophthalmic Plast Reconstr Surg, 2018) [6]
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. [1]
The condition mainly affects a baby's external characteristics, especially their face. Their internal organs and cognition are typically unaffected. [1] The specific features and the severity of your baby's condition may vary. Your baby may have distinctive facial features, excessive hair growth (hypertrichosis), and papery thin, fragile (atrophic) skin. [1]
Who does Barber Say syndrome affect?
Barber Say syndrome is a genetic condition that can affect anyone. [1]
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. [1] Scientists believe between 1 and 300 people are living with the disease in the United States. [1]
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, and the severity can vary as well. [1]
Facial characteristics
Barber Say syndrome can cause distinctive facial characteristics. These facial abnormalities may include:
Facial feature | Description |
Missing or underdeveloped eyebrows | Eyebrows that are absent or not fully formed |
Widely spaced eyes | Eyes set farther apart than typical |
Missing eyelashes | Eyelashes that do not grow |
Outwardly turned eyelids | Eyelids that turn outward |
Wide eye corners | Wider than normal distance in the corners of the eyes, where the upper and lower eyelids meet |
Upturned nose | A nose that tilts upward |
Large, rounded nose | A bigger, rounder nose shape |
Wide nasal bridge | A broader bridge across the nose |
Wide mouth | A mouth that is wider than typical |
Late tooth eruption | Teeth that come in later than usual |
Other signs and symptoms
Other signs and symptoms of the disease may include:
Symptom | Description |
Hypertrichosis | Abnormal, excessive hair growth over much of your baby's body |
Hyperextensible skin | Loose, sagging skin that can stretch beyond normal and then return to its original position |
Hearing impairment | Reduced hearing ability |
Missing breast tissue | Breast tissue that does not develop |
Underdeveloped nipples | Nipples that do not fully form |
Failure to thrive | Slower growth or difficulty gaining weight as expected |
What Causes Barber Say Syndrome?
A genetic change or variant (mutation) in the TWIST2 gene causes Barber-Say syndrome. [1] [3] This gene encodes a protein involved in bone cell development. [1] A mutation in this gene causes the unique characteristics common to this disorder. [1]
Inheritance pattern | How it works |
Autosomal dominant | Since the syndrome is so rare, research on inheritance is limited; most cases show that one parent passing a mutated gene to their child is enough to cause the disorder |
Autosomal recessive | Inheritance may also be recessive: the child can only inherit the condition if both parents pass on a copy of the mutated gene |
De novo (new) mutation | Still other cases develop from a new mutation in the TWIST2 gene that 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, looking for specific signs and symptoms of the condition: distinctive facial characteristics, excessive hair growth, and thin, sagging skin. They'll also ask about your child's biological family history. [1]
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, specifically a mutation in the TWIST2 gene. [1]
How Is Barber Say Syndrome Treated?
There's no cure for Barber Say syndrome. [1] 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:
Specialist | Role |
Ophthalmologist | A doctor who specializes in diagnosing and treating eye and vision conditions |
Dermatologist | A doctor who specializes in diagnosing and treating skin, hair and nail diseases |
Genetic counselor | A healthcare provider who helps you understand your risks of passing on or inheriting a genetic condition |
Corrective surgeries
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. [1]
Surgery type | What it addresses |
Maxillofacial surgery | Face, mouth or jaw dental surgery |
Malar implants | Facial plastic surgery, including cheek implants |
Blepharoplasty or tarsorrhaphy | Eyelid surgeries |
Rhinoplasty | Nose (nasal) reconstruction |
Cheiloplasty | Lip surgery |
Orthognathic surgery | Corrective jaw surgery |
Genioplasty | Chin surgery |
Breast augmentation | Breast surgery, which would occur after puberty |
Other treatment options
Other treatment options may include laser therapy for hypertrichosis (excessive hair growth), and artificial tears, eye lubricants and antibiotics for further eye issues. [1]
What Is the Barber Say Syndrome Life Expectancy?
The life expectancy for a person with Barber Say syndrome is normal. [1] 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. [1]
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.
Can Barber Say Syndrome Be Prevented?
You can't prevent Barber Say syndrome because it's a genetic condition. [1] 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 Questions Should I Ask My Child's Healthcare Provider?
Question | Why it helps |
How rare is my child's condition? | Puts the diagnosis in context |
How serious are my child's symptoms? | Sets expectations for severity |
What type of treatment does my child need? | Clarifies the care plan |
What kind of surgeries will my child need? | Prepares you for corrective options |
What is my child's life expectancy? | Confirms the typically normal outlook |
Becoming a parent for the first time can be a nerve-wracking experience, and 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 that 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. [1]
Conclusion
Barber Say syndrome is an extremely rare genetic condition present from birth, occurring in fewer than 1 in 1,000,000 babies worldwide. [1] It causes malformations that mainly affect external characteristics, especially distinctive facial features like missing eyebrows, widely spaced eyes, and an upturned nose, along with excessive body hair and loose, stretchy skin, while leaving internal organs and cognition typically unaffected. [1] A mutation in the TWIST2 gene, which normally helps with bone cell development, causes the condition, most often through autosomal dominant inheritance but sometimes through recessive or new (de novo) mutations. [1]
Because there's no cure, care is tailored to each child's specific symptoms. [1] A team including an ophthalmologist, dermatologist, and genetic counselor may recommend corrective surgeries (facial, eyelid, nose, lip, jaw, and chin procedures, plus breast augmentation after puberty) as well as laser therapy for hair growth and eye lubricants, with many people seeing a remarkable difference after surgery. [1] Children with Barber Say syndrome have normal motor and speech development and a normal life expectancy [1], and can go on to lead a full, productive life.
Take the next step in understanding your health. If you create rare-disease education materials for parents, Rinnit's library of infographic templates can help you turn topics like TWIST2 gene mutations, surgical timelines, and specialist care teams into clear visual guides for your audience.
Frequently Asked Questions
What is Barber Say syndrome?
Barber Say syndrome is an extremely rare genetic condition present from birth that causes malformations of a newborn's body. [1] It mainly affects external characteristics, especially the face, along with hair growth and skin, and not internal organs or intelligence. [1]
How rare is it?
Barber Say syndrome occurs in less than 1 in 1,000,000 births worldwide. [1] Scientists believe between 1 and 300 people are living with the condition in the United States. [1]
What are the symptoms?
Symptoms are present at birth and vary by child. [1] Facial features may include missing or underdeveloped eyebrows, widely spaced eyes, missing eyelashes, outwardly turned eyelids, wide eye corners, an upturned or large rounded nose, a wide nasal bridge, a wide mouth, and late tooth eruption. [1] Other signs include excessive body hair (hypertrichosis), loose sagging skin, hearing impairment, missing breast tissue, underdeveloped nipples, and failure to thrive. [1]
What causes Barber Say syndrome?
A genetic mutation in the TWIST2 gene, which encodes a protein involved in bone cell development. [1] The mutation causes the unique characteristics common to the disorder. [1]
How is it inherited?
Most cases follow an autosomal dominant pattern, where one parent passing a mutated gene is enough to cause the disorder. [1] Inheritance may also be autosomal recessive (both parents must pass a copy of the mutated gene), and some cases result from a new (de novo) mutation with no family history. [1]
How is it diagnosed?
Through a physical examination looking for distinctive facial characteristics, excessive hair growth, and thin sagging skin, plus family history. [1] A genetic blood test looking for a TWIST2 gene mutation confirms the diagnosis. [1]
Is there a cure?
No. There's no cure, and treatment is unique for each child based on their specific symptoms. [1]
What surgeries are used?
Maxillofacial surgery, cheek (malar) implants, eyelid surgeries (blepharoplasty or tarsorrhaphy), rhinoplasty, lip surgery (cheiloplasty), corrective jaw surgery (orthognathic), chin surgery (genioplasty), and breast augmentation after puberty. [1] Many people see a remarkable difference before and after surgery. [1]
Does it affect a child's intelligence?
No. The disease doesn't cause internal defects or intellectual disabilities. [1] Children typically have normal motor and speech development, and cognition should be normal. [1]
What is the life expectancy?
Normal. [1] The disease shouldn't affect internal organs or cognition, though symptoms and severity ultimately determine long-term outcomes [1], so ask your provider about your child's specific outlook.
Can it be prevented?
No, because it's a genetic condition. [1] If you're planning a pregnancy, talk to your provider about genetic testing to understand your risk of passing certain genes to your child. [1]
How can families cope?
Joining a support group for families of children with rare diseases can answer questions and provide hope. [1] While your child may have physical differences, their cognition should be normal, and they should be able to lead a normal, productive life. [1]
Related Reading
References
Cleveland Clinic. Barber Say Syndrome. Cleveland Clinic Health Library. Last updated June 15, 2022. Accessed October 15, 2026. https://my.clevelandclinic.org/health/diseases/23270-barber-say-syndrome
Genetic and Rare Diseases Information Center (GARD). Barber-Say syndrome. National Institutes of Health. Last updated June 2026. Accessed October 15, 2026. https://rarediseases.info.nih.gov/diseases/819/barber-say-syndrome
Marchegiani S, Davis T, Tessadori F, et al. Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes. Am J Hum Genet. 2015;97(1):99-110. PMID: 26119818. https://doi.org/10.1016/j.ajhg.2015.05.017
De Maria B, Mazzanti L, Roche N, et al. Barber-Say syndrome and ablepharon-macrostomia syndrome: an overview. Am J Med Genet A. 2016;170(8):1989-2001. PMID: 27196381. https://doi.org/10.1002/ajmg.a.37757
Barreiro-González A, Barranco-González H, Aviñó-Martínez J, et al. Multidisciplinary eyelid reconstruction in Barber-Say syndrome: a case report. Arch Soc Esp Oftalmol (Engl Ed). 2019;94(4):196-199. PMID: 30455119. https://doi.org/10.1016/j.oftal.2018.09.009
Zuazo F, Astiazaran MC, Rodríguez-Cabrera L, et al. Clinical description, molecular analysis of TWIST2 gene, and surgical treatment in a patient with Barber-Say syndrome. Ophthalmic Plast Reconstr Surg. 2018;34(2):e61-e63. PMID: 29329175. https://doi.org/10.1097/IOP.0000000000001036
Yohannan MD, Hilgeman J, Allsbrook K. Barber-Say syndrome: a confirmed case of TWIST2 gene mutation. Clin Case Rep. 2017;5(7):1167-1169. PMID: 28680619. https://doi.org/10.1002/ccr3.1014
Rezaei M, Zamani S, Haghighinejad H. Barber Say syndrome (a new case report). Indian Dermatol Online J. 2019;10(2):158-161. PMID: 30984591. https://doi.org/10.4103/idoj.IDOJ_68_18
Medical disclaimer
The information provided in this article is for educational purposes only and is not intended as medical advice. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. If you are planning a pregnancy or have concerns about your child's development, talk with your healthcare provider about genetic testing and specialist care.
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