The Barber Say Syndrome is an inherited genetic disorder that mainly affects a baby's facial features as well as skin, hair and growth.
Barber Say Syndrome is extremely rare and less than 20 cases of Barber Say Syndrome have been diagnosed in the world.
Those affected by barber say syndrome often have normal lifespans and normal intelligence as well.
Babies born with barber say syndrome have 4 primary physical traits that are present at birth, which includes.
Macrostomia, which is an abnormally wide, large mouth.
Ectropion, which is when eyelids are improperly formed, and frequently causes the lower eyelids to turn outward.
Sagging and fragile skin, which includes redundant and loose, and thin skin that often gives a prematurely aged or even wrinkled appearance.
And excessive hair growth also known as hypertrichosis.
The excessive hair growth or hypertrichosis in barber say syndrome is severe and widespread hair growth, most notably occurring on the back, forehead and neck.
Additional features in barber say syndrome are absent or underdeveloped nipples.
Mild genital abnormalities in some males.
And distinctive facial anomalies, like low set ears, widely spaced eyes and a broad and bulbous nose.
The causes of barber say syndrome include inheritance and genetic mutation.
Barber say syndrome is caused by a mutation in the TWIST2 gene, which is critical for embryonic development and the formation of tissues and bones.
Barber say syndrome also often follows an autosomal dominant pattern of inheritance, which means that only one copy of the mutated gene from an affected parent is required to cause the disorder, although it can also occur as a new, de novo mutation in people with no family history.
There is no cure for barber say syndrome, but the physical symptoms of barber say syndrome can be managed with supportive care.
Surgical procedures like reconstructive eyelid or mouth surgery can also improve function and appearance.
And regular monitoring by dermatologists, ophthalmologists and plastic surgeons can also be done and is recommended.