Dysplasia of the proximal femoral epiphyses
Dysplasia of the proximal femoral epiphyses
Definition
A developmental disorder affecting the growth and development of the proximal end of the femur (thigh bone) near the hip joint characterized by avascular necrosis of the femoral head, cystic changes of the femoral head, and/or sclerosis of the femoral head. It is a relatively milder form of the other skeletal disorders associated with COL2A1.
Also identified as
- UMLS C3279764 per MONDO