Osteogenesis Imperfecta (OI) Clinic

The team at Phoenix Children’s diagnoses and treats a wide range of mild to complex bone conditions in children and teens. These include:

  • Fibrous dysplasia: This rare bone disorder causes certain bones to be replaced by abnormal scar-like connective tissue. This often leads to pain and weakened bones that are prone to fracture.
  • McCune-Albright syndrome: This extremely rare disorder affects the bones, skin and hormone-producing glands. Some bones may be replaced by scar-like tissue (a condition known as fibrous dysplasia) which may cause bone pain and fragility, brown patches on the skin and hormonal imbalances.
  • Hypophosphatasia: A rare genetic condition that affects how much mineral content is in the bones and teeth, which can lead to soft bones and make them prone to deformity and fracture.
  • Hypophosphatemic rickets (XLH): A rare genetic condition that causes low phosphate levels in the blood, which can cause soft and weak bones, bowed legs, bone pain, short stature and dental issues.
  • Osteogenesis imperfecta (OI): We treat all the types of OI, also known as brittle bone disease, including:
    • OI type I: As the mildest and most common form, OI type I causes muscle weakness and few broken bones. About 50% of people affected by OI have type I.
    • OI type III: Babies with OI type III typically have broken bones at birth, bowed long bones and  physical disabilities. 
    • OI type IV: With bone deformities and symptoms that can range from mild to severe, children with OI type IV experience most bone breaks before puberty.
  • Osteopetrosis: Also known as marble bone disease, osteopetrosis is a genetic disorder that causes bones throughout the body to grow abnormally and become overly dense. 
  • Stickler syndrome: A group of connective tissue disorders that can affect the eyes, ears, skeleton and joints.