Barber Say syndrome

Synonym(s)

Say syndrome

Definition

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

Pathogenesis

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

Therapy

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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