Barber Say syndrome


Say syndrome


Disease entity consisting of hypertrichosis, xerosis, cutis laxa, dysmorphic facial features, and eye changes


Autosomal recessive inheritance

Clinical manifestation

Hypertrichosis over the upper trunk and face; xerosis; generalized cutis laxa; macros-tomia; opacification of the corneas; variable nystagmus

Differential diagnosis

Cone-rod congenital amaurosis; ablepha-ron-macrostomia syndrome; Turner's syndrome; Brachmann-de Lange syndrome; Sanfilippo syndrome; Hunter's syndrome; leprechaunism


No effective therapy References

Martinez Santana S, Perez Alvarez F, Frias JL, Martinez-Frias ML (1993) Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case. American Journal of Medical Genetics

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