[Spondyloepiphyseal and metaphyseal dysplasia]

Spondyloepiphyseal, metaphyseal and spondylometaphyseal dysplasias are a group of hereditary skeletal diseases, which lead to small stature, axial deformities of the lower extremities and spinal deformities. They differ in pathophysiology, heredity and in their clinical and radiologic appearance. The orthopaedic surgeon treats the spinal manifestations and the axial malalignment of the disease. Among the spinal deformities there are instabilities of the upper cervical spine as well as structural deformities like kyphosis and scoliosis. More frequently, the axial malalignment caused by congenital coxa vara, severe genu varum or genu valgum requires treatment. These deformities are managed by corrective osteotomies of the proximal femur, supracondylar or proximal tibial osteotomies around the knee and by temporary epiphyseodeses. Despite a high recurrence rate requiring repeated surgery the patients report great satisfaction with the treatment results. Well-timed orthopaedic treatment helps avoid or delay the inevitable long-term sequelae of untreated patients such as painful degenerative changes of the spine or early onset of severe osteoarthritis.