Conditions / Syndrome
Ghosal hematodiaphyseal syndrome
info · Syndrome
A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34.
Signs and symptoms
- Iron deficiency anemia
- Metaphyseal widening
- Cortical thickening of long bone diaphyses
- Diaphyseal dysplasia
- Knee pain
- Erythroid dysplasia
- Megakaryocyte dysplasia
- Myelofibrosis
- Increased density of long bones
- Anemia
Also known as: Ghosal hematodiaphyseal dysplasia; Ghosal syndrome; diaphyseal dysplasia-anemia syndrome