Conditions / Genetic
diaphyseal medullary stenosis with malignant fibrous histiocytoma
info · Genetic
An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21.
Signs and symptoms
- Skeletal muscle atrophy
- Patchy osteosclerosis
- Presenile cataracts
- Diaphyseal cortical sclerosis
- Osteomyelitis leading to amputation due to slow healing fractures
- Recurrent long bone fractures
- Limb muscle weakness
- Metaphyseal striations
- Fibrosarcoma
- Stenosis of the medullary cavity of the long bones
Also known as: Hardcastle syndrome; bone dysplasia-medullary fibrosarcoma syndrome; diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome