Conditions / Syndrome
Barber-Say syndrome
info · Syndrome
A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in t
A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37.
Signs and symptoms
- Hypertrichosis
- Bulbous nose
- Wide mouth
- Ectropion
- Hypoplastic nipples
- Microtia, first degree
- Redundant skin
- Wide nose
- Dermal atrophy
- Stenosis of the external auditory canal