Living with Barber-Say syndrome
A very rare condition with extra hair growth, thin fragile skin, outward-turned eyelids, and a large mouth.
Understanding Barber-Say syndrome
It is present from birth and varies from mild to severe. Other features can include missing eyebrows and eyelashes, a wide nasal bridge, late tooth eruption, and hearing loss.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Extra hair growth over the body
- Eyelids that turn outward (ectropion)
- Thin, loose skin
- Wide mouth
- Sparse or absent eyebrows and eyelashes
- Hearing loss
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in TWIST2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Foundation for Ectodermal Dysplasias and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
At least some cases are caused by changes in the TWIST2 gene. GARD lists autosomal dominant and autosomal recessive inheritance.
Also known as: bbrsay; hypertrichosis-atrophic skin-ectropion-macrostomia syndrome; hypertrichosis, atrophic skin, ectropion, and macrostomia
Patient organizations
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Barber-Say syndrome.
Explore research for Barber-Say syndrome
Explore actively recruiting Barber-Say syndrome studies with HealthSpark.
Find actively recruiting studies for Barber-Say syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Barber-Say syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Barber-Say syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Barber-Say syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.