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Ghosal hematodiaphyseal dysplasia

Synonym(s) Diaphyseal dysplasia-anemia syndrome
Ghosal syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset -
ICD-10 -
MeSH -
MedDRA -


Disease definition

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).

Genetic counseling

GHDD is transmitted as an autosomal recessive trait.

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