GAPO Syndrome – Diagnosis of a Rare Case Report and Review

Abstract GAPO syndrome is an unusual genetic disorder with an autosomal recessive trait inheritance. The syndrome is caused due a genetic defect or alterations in the ANTXR1/TEM8 gene. GAPO has major features such as growth retardation, sparse hair, pseudo anodontia, and optic atrophy. In this article, we are reporting a female child patient with syndromic features. Based on the patient’s history, clinical presentation, and radiographic features, we arrived at a provisional diagnosis of GAPO syndrome and advised genetic testing, which confirmed our diagnosis.