Ghosal Hematodiaphyseal Dysplasia

Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.

Epidemiology

The exact prevalence is unknown. GHDD has been reported in unrelated families of Indian and Middle East origin.

Etiology

GHDD is associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase).

Genetic counseling

GHDD is transmitted as an autosomal recessive trait.