Barber Say Syndrome
Hypertrichosis atrophic skin ectropion macrostomia
Type of disease: Rare conditions
Barber-Say syndrome is a rare genetic disease. Symptoms include excessive hair growth, weak and thin skin, eyelids that are turned outward, and a larger-than-average mouth. The teeth are normally present, but there may be a delay in when they erupt. The number and severity of symptoms shown can vary greatly for patients of Barber-Say syndrome.
Barber-Say syndrome is a genetic condition caused by a change in the TWIST2 gene. Barber-Say syndrome is most likely passed down from parent to child in an autosomal dominant manner (though there may be autosomal recessive inheritance in some cases) which means only one mutation from one parent is needed to cause symptoms. A person with this condition has a 50/50 chance of passing the condition on to their children.
Treatment varies on the symptoms present, and is complex. There is no known cure for this condition. If you or a family member has been diagnosed with Barber-Say syndrome, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.