Growth retardation-alopecia-pseudoanodontia-optic atrophy (GAPO) syndrome

Abstract

This case reports on a 21/2-year-old male child with GAPO syndrome, a rare autosomal recessive condition characterized by growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). Since Anderson and Pindborg in 1947 first described this syndrome, close to 30 individuals have been reported with this diagnosis. Often a history of consanguinity is noted, as in our case, in this rare autosomal recessive condition. The phenotype of this condition, initially thought to be a result of ectodermal dysplasia, can be attributed to the accumulation of extracellular connective tissue matrix and its progressive character must be pointed out. The clinical findings, ophthalmological features that include optic atrophy, glaucoma, are reviewed and discussed.