Cervical kyphosis is present in 30–50% of individuals. It is due to hypoplasia of the vertebral bodies and progressive degenerative changes in the intervertebral joints. Cervical kyphosis can range from mild to severe. In children with mild cervical kyphosis, these concerns often resolve without treatment. A predisposition to spinal cord compression is seen in severe cases, and surgery may be necessary to alleviate it. If this is performed, a halo and vest device are typically used after surgery to support the neck until healing or fusion is achieved. It is important that all children with diastrophic dysplasia are monitored for cervical kyphosis.
Scoliosis is very common in diastrophic dysplasia. There appears to be several developmental patterns of scoliosis. One pattern is that of a kyphoscoliosis which develops in infancy and is rapidly progressive. A second pattern is that of a kyphoscoliosis which develops at an older age, tends to progress more slowly, and can accelerate during puberty. The third pattern is that of a kyphoscoliosis which is also later in onset, but is mild and non-progressive. Non-invasive treatments can involve bracing and serial casting. Surgical management can include growing rod systems and ultimately spinal fusion procedures.
Foot deformity in diastrophic dysplasia is quite common and is often termed “clubfoot.” The deformity, however, is quite distinct and more complex than a classic clubfoot deformity. There are differences in both the hindfoot (towards the ankle) and the forefoot (towards the toes). The hindfoot tends to have decreased range of motion and is locked into a dorsiflexed position. The forefoot is angulated towards the midline. Taken together the foot has a “serpentine” appearance.
Types of treatment for diastrophic feet are individualized and based on an individual’s unique anatomy. It is important for the foot to be regularly monitored by an experienced pediatric orthopedic surgeon so appropriate treatments can be started at the right time. Serial casting is often utilized in infancy. Surgical correction is often required to achieve a foot position where the foot and heel can simultaneously be on the floor during walking. Recurrence is common and additional surgeries may be required. Special orthotic shoes are often beneficial.8
Changes to the Lower Extremities
Joint contractures, progressive subluxation of the hips and dislocation of the knees occur due to changes in the joints. If those changes interfere with walking, surgery may be recommended at the hips and/or knees to improve function. Hip or knee replacement surgery is usually necessary in early to mid-adulthood and typically has successful results. Due to underlying changes in the cartilage of patients with diastrophic dysplasia, degenerative joint disease (arthritis) is also common.9