Barber-Say syndrome

Barber-Say syndrome is an extremely rare genetic disorder characterized by a distinctive combination of congenital features including generalized hypertrichosis (excessive hair growth over the body), atrophic skin (thin, fragile skin), ectropion (outward turning of the eyelids), and macrostomia (abnormally wide mouth). The condition is apparent at birth and affects multiple body systems, primarily the skin, eyes, and craniofacial structures. Additional features may include a broad nose with a bulbous tip, sparse scalp hair or eyebrows despite generalized body hypertrichosis, redundant skin folds, hypoplastic nipples, and abnormalities of the ears. Some patients may also present with telecanthus (widely spaced inner corners of the eyes) and dental anomalies. Barber-Say syndrome shares overlapping clinical features with ablepharon-macrostomia syndrome, and both conditions have been linked to mutations in the TWIST2 gene (also known as DERMO1), which plays a critical role in mesenchymal cell differentiation and skin development. The two conditions are now considered to represent a phenotypic spectrum of the same genetic disorder. Inheritance follows an autosomal dominant pattern, though most reported cases appear to arise from de novo (new) mutations. There is no cure for Barber-Say syndrome, and management is symptomatic and supportive. Treatment typically involves a multidisciplinary approach including ophthalmologic care for ectropion (which may require surgical correction to protect the cornea), plastic or reconstructive surgery for macrostomia, dermatologic management for skin fragility, and regular monitoring for associated complications. Early intervention and coordinated care among specialists are important to optimize outcomes and quality of life. Fewer than 30 cases have been reported in the medical literature.

Common questions about Barber-Say syndrome