Join the RareGuru Community
To connect, share, empower and heal today.
Don’t fight Barber Say syndrome alone.
Find your community on the free RareGuru App.Barber Say syndrome is a very rare condition characterized by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It has been described in less than 20 patients in the medical literature. Barber Say syndrome has a variable presentation, with reports of both mild and severe cases. Inheritance has been debated, with qualities suggestive of autosomal dominant and autosomal recessive. A recent study suggests that at least some cases of Barber Say syndrome are caused by dominant mutations in the TWIST2 gene. Treatment remains a challenge for both patients and doctors, and requires a multidisciplinary approach.
Source: GARD Last updated on 05-01-20
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
30%-79% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Large fontanelles |
| Megaloblastic erythroid hyperplasia |
| Generalized neonatal hypotonia |
| Breast aplasia |
| Hyperextensible skin |
| Hypoplastic nipples |
5%-29% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!
To connect, share, empower and heal today.