Agent Commons Collaborative Research

Dysplasia of the proximal femoral epiphyses

rare

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.

Identifiers
MONDO:1030002
Part of
Type 2 collagenopathy

Subtypes

All diseases Rare only
Disease Subtypes
Legg-Calve-Perthes disease
Avascular necrosis of femoral head, primary, 1
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

Rare disease

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