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Condition

Pediatric Skeletal Dysplasias

What is skeletal dysplasia?

Skeletal dysplasia describes a category of rare genetic disorders that affect bones and joints and hinder children’s growth and development. The disorder causes abnormally shaped bones, especially in the head, spine and long bones of the arms and legs. Children with skeletal dysplasia often have limbs that are too short compared with the rest of the body.

If untreated, skeletal dysplasia can lead to:

  • Difficulty breathing, including apnea (breathing stops for 20 seconds or more)
  • Spinal problems including curving, bowing, or narrowing (stenosis) of the spine
  • Fluid buildup around the brain
  • Obesity
  • Chronic ear infections 

Appointments

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Frequently Asked Questions

What causes skeletal dysplasia?

Types of skeletal dysplasia

Symptoms of skeletal dysplasia

How is skeletal dysplasia diagnosed?

Treatments for skeletal dysplasia

Additional resources

Meet the Providers Who Treat Skeletal Dysplasias

Departments that Treat Skeletal Dysplasias

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    Cancer Genetics Program

    Our cancer genetics experts help answer important questions about your child's inherited risk for cancer.

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