Conditions / Genetic
pseudoachondroplasia
info · Genetic
An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.
Signs and symptoms
- Brachydactyly
- Scoliosis
- Genu varum
- Metaphyseal irregularity
- Irregular epiphyses
- Platyspondyly
- Beaking of vertebral bodies
- Osteoarthritis
- Delayed epiphyseal ossification
- Metaphyseal widening
Also known as: SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC; pseudoachondroplastic dysplasia