Spondyloepiphyseal Dysplasia

Spondyloepiphyseal dysplasia is a rare genetic disorder that affects the development of the bones of the spine and epiphysis (joint ends). It is recognized in early childhood. It is characterized by marked short stature, short trunk, spinal curvatures and joint stiffness.

Common orthopedic problems in this disease:

• Scoliosis and kyphosis
• Developmental delay in the hip joint
• Knee contracture
• Foot deformities

Genetic tests as well as MRI of the spine and X-rays of the extremities are used for diagnosis.

Treatment is planned according to the symptoms:

• Scoliosis surgery
• Osteotomies (bone correction surgery)
• Physical therapy to maintain joint range of motion

Multidisciplinary approach (orthopedics, physical therapy, genetics) improves the quality of life of patients.