Skeletal Dysplasias

Skeletal dysplasias are a group of inherited diseases characterized by developmental disorders of bone and cartilage tissues. These conditions can cause different clinical pictures such as short stature, disproportionate limb development, joint stiffness and spinal deformities.

Diagnosis is usually based on postnatal physical examination, bone x-rays, genetic analysis and growth monitoring.

The orthopedic approach includes

  • Growth guidance surgeries (hemiepiphysiodesis/epiphysiodesis)
  • Bone correction surgeries (osteotomies)
  • Scoliosis surgeries

Treatment of skeletal dysplasia should be individualized, considering the patient’s growth process, functional needs and aesthetic expectations.