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Programs & Services

Skeletal Health and Dysplasia Clinic


At your child’s visit, your family will meet with members of our team, which includes:

  • An orthopedist
  • A neurosurgeon
  • An endocrinologist
  • A clinical geneticist
  • An otolaryngologist
  • An audiologist
  • Therapists

Your visit may take several hours and will include a complete examination of medical history, review of X-rays, other imaging or labs, and a thorough physical examination.

Depending on your child’s condition and needs, we may also:

  • Obtain bone health lab work and interpretation
  • Order and interpret genetic tests
  • Refer your child for more testing, such as a hearing evaluation and respiratory function testing

Treatment and Management

We’ll work with you to create a care plan just for your child. The care plan may include:

  • Surgery to correct skeletal deformation, reduce symptoms or improve function
  • Physical and occupational therapy to build strength, help prevent fractures or falls, improve pain, and help your child find ways to function as fully as possible
  • Orthotics or equipment to correct limb alignment or help your child move and function
  • Medications, such as:
    • Bisphosphonates: Drugs that can help prevent loss of bone density
    • Enzyme replacement: Intravenous (IV) infusions or at-home injections to replace enzymes that may be missing or not functioning well
    • Burosumab: Injections that prevent loss of phosphorus in the urine and that improve blood phosphate levels – low levels can lead to rickets or osteomalacia

As your child grows older, your family will have routine clinic visits each year or as often as recommended. We’ll assess your child’s condition regularly and make any adjustments needed to the care plan. We’ll continue to monitor your child and provide care as long as needed, through age 21.

Building a Better Future for Children and Adults With Bone Disorders

Phoenix Children’s is committed to improving the health of all children, including those with rare bone and skeletal dysplasia conditions. Our specialists are actively involved in clinical research and are working to expand their rapidly growing research program.

Education and outreach are central to our mission of improving care and quality of life for children and adults with rare bone disorders and skeletal dysplasia. Our team members are active in rare bone disease communities and their organizations, including the Osteogenesis Imperfecta Foundation, Soft Bones, and Little People of America. We help educate other healthcare professionals about bone disorders – how to diagnose, treat and manage them effectively — and when to refer children to our clinic.

We work closely with the Osteogenesis Imperfecta (OI) Foundation, an organization committed to improving the quality of life for people with OI. Through our relationship with the OI Foundation, we are a new clinical site for the NIH-funded Brittle Bone Disorders Consortium of the Rare Diseases Clinical Research Network. The consortium is a multicenter group that focuses on understanding and providing better treatment options for rare diseases that cause bone fragility and fractures.

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