Chromosomal and Genetic Conditions

Dwarfism and Bone Dysplasias Symptoms and Diagnosis

Symptoms of Dwarfism and Bone Dysplasias

Children with dwarfism are very far below average height for their age. They may not have full motion in their joints and they sometimes have bowlegs or knock-knees.

Dwarfism and Bone Dysplasias Diagnosis

Children usually come to us after their parents or doctors notice:

  • They are not growing as quickly as other children their age
  • Their arms and legs, trunk or face look different from other children's

When you come to our clinic, we ask about your child's growth history. We also ask about the height of members of your child's family, and how the mother's pregnancy progressed.

We will want to know about any medical conditions your child has, and any similar problems in the rest of your family.

Next, we examine your child. We measure their height and the length of their arms and legs. We take X-rays of their arms, legs, pelvis, spine and skull. This is called a skeletal survey. It helps us find out which bones may not be growing the way they usually do in children.

We may also take blood samples from your child so that we can test for levels of hormones and other chemicals that can help us understand how your child is growing.

Because children may have other conditions that come along with bone dysplasias, we may ask your child to have an MRI (magnetic resonance imaging) scan or a CT (computed tomography) scan to check for other problems.

Often children with dysplasias have difficulty breathing at night (sleep apnea), and so we may ask them to have a sleep study.

Sometimes, pregnant women have ultrasound tests that raise concerns about the growth of the baby in their womb. In these cases, we take specific ultrasound images that can help identify bone dysplasias before birth.