For genetic counseling of the family and patient faced with the choice of reproduction, it is essential to determine the specific diagnosis and mode of inheritance. It is no longer adequate to label a condition a “variant.” However, in some cases the diagnosis remains unclear, and reproductive risks cannot be predicted. Psychosocial counseling may therefore be needed to promote a feeling of self-worth in the patient and social adjustment. Parents must encourage age-related—not size-related—behavior, social interaction, and independence in their affected children.

Medical Management. Patients must develop good nutritional habits early in life. Obesity is a serious problem; in a small person, even a minor weight gain is immediately apparent and may contribute to biomechanical imbalances or complications. Particularly common in persons with achondroplasia, overweight must be avoided not only to prevent hypertension and other cardiovascular diseases but also because it can precipitate or aggravate compressive myelopathy. Thus, weight loss often relieves symptoms of spinal cord ischemia. Exercise can help maintain ideal body weight, but in people with dwarfism, specific skeletal problems obviously impose some limitations, and patients should select activities that do not stress the weight-bearing joints, such as swimming and bicycling.

Custom-made shoes and orthotic devices placed in the shoe help compensate for any limb-length discrepancy, but surgery and/or a limb prosthesis may be needed in severe cases.

Surgical Treatment. Most skeletal limb deformities and malalignment problems are not amenable to conservative measures such as bracing and must eventually be corrected with surgery. Scoliosis and kyphoscoliosis are managed with bracing or spinal fusion. Symmetric extensive limb lengthening is experimental at this time and highly controversial.

Surgical decompression is the usual treatment for spinal stenosis; spinal fusion is occasionally required. Because wide posterior laminectomy may create spinal instability, anterior vertebral body fusion followed by posterior laminectomy is often performed. Timing for surgical decompression is critical; if performed too late, it will not restore function or prevent progression. Surgery is also associated with significant morbidity.

Whenever a dwarfing condition is suspected, the cervical spine must be examined carefully for atlantoaxial instability. Radiographs should be taken with the neck in flexion, extension, and neutral position. Spinal fusion is often the treatment of choice for this hazardous complication.

Skeletal malalignment, obesity, and participation in proscribed activities may lead to or aggravate early osteoarthritis. People with dwarfism are now frequent candidates for total joint replacement, especially of the hip.