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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 
Children's Team

Children's Team

Providers

Sean Tabaie

Sean Tabaie

Orthopaedic Surgeon
Cerebral Palsy, Limb Lengthening and Deformity, Orthopaedic Trauma Specialist
Laura Tosi

Laura Tosi

Director, Bone Health Program
Orthopaedic Surgeon
Rare Bone Disease, Bone Health and Orthopaedic Trauma Specialist
Megan Young

Megan Young

Orthopaedic Surgeon
Limb Lengthening and Deformity, Orthopaedic Trauma Specialist
Departments

Departments

Skeletal Dysplasia Clinic

For more than 25 years, the Skeletal Dysplasia Clinic has provided multidisciplinary care for infants, children, and young adults with various forms of skeletal disorders.

Cancer Genetics Program

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

Orthopaedic Surgery and Sports Medicine

From sprains and strains to complex congenital conditions, Children’s National Hospital offers one of the most experienced pediatric orthopaedic practices in the nation with experience in treating all areas from head to toe.

Rare Disease Institute

Children’s National Rare Disease Institute (CNRDI) is a first-of-its-kind center focused exclusively on advancing the care and treatment of children and adults with rare genetic diseases.

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Despite the past decade spent in and out of the hospital, Amira has her sights set on a bright future and doesn’t allow her diagnosis to define who she is.

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