Skeletal dysplasia is a term for a group of rare genetic conditions that affect a child’s bone and cartilage growth, as well as brain development and function. There are more than 400 types of skeletal dysplasia – some are present at birth and others slowly develop as the child grows.
At Banner Children’s, our caring team can help. Learn how skeletal dysplasia may affect your child, symptoms to watch for and available treatment options.
There are 206 bones in the human skeleton. When one or more bones (or cartilage in infants) do not form or develop normally, they are called dysplastic.
Children with skeletal dysplasia will have differences in the size and shape of their legs, arms, spine and/or head (skull). In addition, these children may be shorter in height and might also have arms and legs that are shorter compared to the rest of their bodies.
Overall, skeletal dysplasia affects nearly one in every 4,000 to 5,000 births. Skeletal dysplasia is caused by genetic mutations that are either passed down to children from their parents (inherited) or simply happen randomly without any family history.
Skeletal dysplasia may be noticed at birth, but some symptoms may not develop until early childhood. Also, because there are so many different types and levels of severity (from mild to severe), skeletal dysplasia can affect each child and their body parts differently.
Symptoms in the arms and legs include:
Symptoms in the spine and torso include:
Symptoms of the head and skull include:
Common types of skeletal dysplasia include:
Skeletal dysplasia is often first seen in pregnancy during a prenatal ultrasound. If skeletal dysplasia is detected, the pregnant person will be referred to a genetic specialist for further testing, which may include amniocentesis (testing the fluid surrounding the baby in the womb).
If your child is not diagnosed before birth, your child’s health care provider may notice symptoms during your child’s first year. Diagnosing skeletal dysplasia involves a physical exam, a review of your family’s medical history, imaging tests (like X-rays, MRIs or CT scans) to check for problems and possibly genetic testing to see if there are any genetic mutations. Geneticists and orthopedic specialists may also review test results to help with a diagnosis and treatment plan.
Treatment of skeletal dysplasia will depend on what type your child has, the severity of symptoms and how it affects their body and daily life. Ideally, your child will receive care from a team of specialists that may include pediatric neurologists, orthopedic specialists, ophthalmologists and geneticists, among others.
Your child’s treatment plan may include the following:
Depending on the type and severity of the condition, your child’s treatment plan may also include surgery. Surgical options may include:
The long-term outlook depends on the type and severity of the dysplasia. About half of infants with skeletal dysplasia are stillborn or die soon after birth. However, with treatment, support and careful medical monitoring throughout childhood and the teen years, most children with skeletal dysplasia can lead fulfilling lives into adulthood.
Educational support is very important for children with skeletal dysplasia. This may involve accommodations at school such as accessibility modifications, individualized education plans (IEPs), emotional support, assistive technology and tools and transition planning.
Clear communication between the school, parents and health care professionals is important to make sure a child thrives academically and socially. Your health care provider can help you understand your child’s rights for assistance at school and elsewhere.
Skeletal dysplasia can have an emotional impact on both your child and your family. Children with skeletal dysplasia may feel frustrated or self-conscious because of their physical differences. Families may also worry and stress about the unique needs of their child.
Support groups, counseling services and skeletal dysplasia organizations can offer resources. They can also connect you with other families who understand what you’re experiencing and help you navigate any challenges.
If you think your child may have skeletal dysplasia, contact Banner Children’s. Our pediatric orthopedic specialists offer your child complete care to cover all of their needs. We will also explain all treatment options to help you decide what’s best for your child.