GAPO syndrome – Report of a rare case and review

Abstract

A typical case of GAPO syndrome is an autosomal recessive disorder caused by biallelic mutations in the anthrax toxin receptor 1 gene. GAPO is the acronym for the syndrome characterized by a pattern of growth retardation, alopecia, pseudoanodontia, and progressive optic atrophy. Until now, approximately 60 cases have been reported. Herewith, we report the case of a 16-year-old male patient with GAPO syndrome who reported with the chief complaint of missing teeth in the front and back region in both the upper and lower jaw and wanted replacement of teeth. On examination, he had alopecia, short stature along with blindness. The dental findings were unerupted primary and permanent dentitions, which seemed clinically to be a total anodontia and the dental X-rays showed multiple impacted teeth. Based on the clinical and radiographic features, the case was diagnosed as GAPO syndrome.