Skeletal Dysplasia | Diagnosis & Treatments

How is skeletal dysplasia diagnosed?

Skeletal dysplasia is often diagnosed during pregnancy by prenatal ultrasound. In general, the earlier skeletal dysplasia becomes detectable on an ultrasound, the more severe it tends to be. If a baby has a family history of skeletal dysplasia, genetic testing can detect the condition.

If not detected before birth, you or your child’s pediatrician may notice signs of skeletal dysplasia during your baby’s first year. In many cases, one of the first signs is that the baby’s head grows much larger than the rest of their body. Your child’s doctor may order one or more imaging tests to confirm the diagnosis and determine its severity:

How is skeletal dysplasia treated?

There is no cure for skeletal dysplasia. Your child’s treatment will depend on what type they have, its severity, and what parts of their body are affected.

  • If your baby has mild skeletal dysplasia, their doctor may recommend giving them time to develop before starting medical treatment.
  • Some treatments focus on making your baby more comfortable and reducing the painful symptoms of skeletal dysplasia.
  • Some treatments use medicine to stimulate growth or change the way your child’s bones are growing.
  • Some treatments involve surgery to correct bone growth.

Surgical treatments for skeletal dysplasia

  • Spinal stenosis surgery can correct spinal stenosis. A neurosurgeon will remove excess bone around the spinal cord, and an orthopedic surgeon will stabilize the spine with screws and rods.
  • Spinal fusion surgery can correct scoliosis or kyphosis. An orthopedic surgeon will attach screws and rods to the curved section of your child’s spine to hold the spine in a straighter position. Bone chips will then be placed around the affected vertebrae to stimulate bone growth. Over time, this section of the spine will fuse into solid, stable bone.
  • Limb-lengthening surgery can correct a significant leg-length discrepancy or short arms that interfere with daily activities. An orthopedic surgeon will cut the bone to be lengthened and attach a device to the limb. A few days after surgery, the device will be adjusted to pull the two ends of bone apart very gradually, stimulating the growth of new bone. This process is repeated several times over a period of months until the limb reaches its desired length.
  • Osteotomy can correct a bone that is growing crooked. An orthopedic surgeon will cut the bone and move it into a straighter position. Screws and metal plates will hold the bone in its new position as it heals.