Ghosal hematodiaphyseal dysplasia syndrome

Overview

Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia. The exact prevalence is unknown. GHDD has been reported in unrelated families of Indian and Middle East origin, and is associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). GHDD is transmitted as an autosomal recessive trait.