Barber-Say syndrome (DOID:0060549)
Alliance: disease page
Alt IDs: OMIM:209885, MESH:C537908, ORDO:1231, UMLS_CUI:C1319466
Definition: 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.