Skeletal dysplasia is an umbrella term for more than 400 hundred rare conditions which cause a child’s bones and cartilage (connective tissue) to develop differently. It is sometimes referred to as dwarfism. Bones in the spine, skull, arms and legs may be shorter or crooked. Some skeletal dysplasias also cause developmental delays.
These conditions are overwhelming for new or expectant parents, but Shriners Children’s, as one of the largest pediatric orthopedic healthcare systems, has specialized teams and support services to help children with skeletal dysplasia enjoy healthy, full lives.
Shriners Children’s offers a care team of specialists in pediatric orthopedic surgery, neurology, otolaryngology (ear, nose and throat), physical and occupational therapy, and special rehabilitation physicians called physiatrists. Our multidisciplinary approach assesses each child and clinicians collaborate to provide thorough, comprehensive care.
Shriners Children’s also provides genetic testing to help physicians and the family reach a diagnosis. Skeletal dysplasias are generally genetic conditions. A mutation (change or defect) in a specific gene causes changes from normal growth. They may be diagnosed on ultrasound during pregnancy or not apparent until the child begins to grow.
Specific treatments and services may vary by location. Please contact a specific location for more information.
There is such a broad spectrum of conditions, so it’s not as easy as just identifying a syndrome. You really need a multidisciplinary team to solve the complexities.
With more than 400 conditions, each child’s treatment approach will vary based on the severity and impact of their differences. Below are some of the common skeletal dysplasia conditions treated at Shriners Children’s. If you don't see your child's condition, please call a Shriners Children's location.
We recognize that caring for a child with skeletal dysplasia requires a team approach. Shriners Children's locations offer a wide variety of pediatric services that can help diagnose your child including motion analysis centers, pediatric radiology, facial and dental imaging, and orthotic services on-site.
Other specialists focus on supporting the emotional and social needs of your child such as psychologists, social workers and RN care management, and child life specialists.
