Skeletal dysplasias are developmental disorders of chondro-osseous tissue, and include 456 disorders according to "Nosology and Classification of Genetic Skeletal Disorders : 2010 Revision". Research on the rehabilitation for patients with skeletal dysplasias is scarce, but many patients experience various kinds of disabilities throughout their lives. Achondroplasia is a representative disorder manifesting short stature. In childhood, muscle hypotonia leads to delayed motor development. Individuals with achondroplasia may need support for their ADL, mainly ambulation. Though discussion exists as to whether short stature itself is a disability, growth hormone treatment and limb lengthening surgery are performed in some patients and patients undergoing the latter require postoperative physiotherapy. Leg deformities associated with knee joint laxity are refractory to brace treatment and treated with tibial osteotomies to prevent progression to osteoarthritis in some patients. In adulthood, spinal canal stenosis is a matter of great concern. Kyphosis at the thoracolumbar junction is a risk factor for early development of clinical symptoms, and must be prevented with posture management and spinal orthoses, if necessary, from childhood on. Osteogenesis imperfecta is a representative disorder manifesting bone fragility. Bone fragility constitutes a vicious cycle with fractures, fixation and reduced weight bearing as their treatment. A multidisciplinary approach to break this vicious cycle is mandatory, including orthoses and/or surgery to treat fragility/deformity of long bones and spinal deformities, medication for bone fragility, and rehabilitation to prevent fractures and improve ambulatory status. In rehabilitation planning, it is important to set an appropriate goal in ambulation.

Disabilities in children with spina bifida include those due to central nervous system dysfunction, motor-and-sensory disturbances of the trunk and lower extremities, and excretory disorders. These lead to the necessity of a multidisciplinary approach by medical doctors, rehabilitation staff, nurses, and psychologists involved in the treatment. As motor weakness leads to disturbances in ambulation, physiatrists and physical therapists must deal with the patients with enough knowledge about the factors affecting ambulation, the assessment of motor function, and the indications/limitations of physical therapy and brace treatment. Ambulatory status is affected by motor and sensory deficits, deformities and contractures of the legs, spinal deformities, equilibrium, mental status and so forth, among which the neurosegmental level of paraplegia is the most important variable. Physical therapy in neonates and infants includes careful assessment of the neonate, manual exercise to correct deformities and to improve contractures, positioning and handling leading to sitting and standing exercises. Once the sitting balance is stable, standing and walking exercises should be considered. In patients with higher neurosegmental levels involved, the practical way of ambulation in the future is by wheelchair. Whether standing and walking exercises are indicated in these patients is controversial. In those with lower levels involved, braces may be prescribed considering the muscle strength and the joint stability. Treatments of hip dislocations and spinal deformities are also controversial. Finally, in the overall rehabilitation approach, the possibility of osteopenia and latex allergy should be kept in mind.

Ambulation in patients with spina bifida is affected by many factors, of which neurosegmental level is the most influential. In addition, some ambulatory patients experience deterioration over time, though longitudinal studies are scarce. This study investigated patient ambulation and its related factors in 21 patients with open myelomeningocele who were followed from infancy until over 15 years of age. In five patients, ambulation at the final visit exceeded the goal set up by Oki according to the patient's neurosegmental level. As these patients had L3 or L4 paralysis, our estimation of their neurosegmental level made according to Menelaus, which differs from that made using Sharrard's classification, may have influenced this result. Ambulation in five patients was below the goal, and two patients among this group experienced ambulatory deterioration during the follow-up period. In these five patients, as compared with the remaining 11 patients, the incidence of scoliosis, hip dysplasias, and obesity was higher, which may have influenced their lower ambulation status.

For lower limb amputees, good prosthetic fittings are important for wearing prostheses while ensuring gait stability, without skin breakdown. Poor prosthetic fittings tend to occur in the early stage after amputation because of significant changes in residual limb volume. We measured the extent of change in residual limb volume in three below-the-knee amputees by using computed tomography. The measurements were performed before and after inpatient rehabilitation for the first prosthesis. The measurement showed a remarkable change in residual limb volume in a highly active amputee without complications. In contrast, the change in residual limb volume was small in two less active below-the-knee amputees with serious complications, such as heart and renal failures. Generally, to maintain good prosthetic fittings, the first prostheses should be made during inpatient rehabilitation to facilitate maturation of the residual limbs. For the less active below-knee amputees, the prostheses could be made in the outpatient settings because the volume fluctuations of their residual limbs are small and the functional requirements for their daily living are modest.