Don’t fight Ghosal hematodiaphyseal dysplasia syndrome alone.Find your community on the free RareGuru App.
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1802
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.
GHDD is associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase).
GHDD is transmitted as an autosomal recessive trait.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!