Center for Musculoskeletal Research

Johns Hopkins University School of Medicine

Rare Bone Diseases

Rare bone diseases include genetic and congenital origins that result in developmental abnormalities of the skeletal system. Rare bone disease pose a great challenge in terms of both diagnosis and treatment. The Center for Musculoskeletal Research is comprised of physicians and scientists who study and treat rare bone diseases. While learning more about specific rare bone diseases, we have also discovered novel insights into the etiology of common, chronic skeletal disorders. Additionally, the novel insights we have learned about cellular signaling within the bone portends to potential treatment regimens for rare bone diseases.

Specific rare disorders with bone manifestations that are currently under investigation:

• Camurati Engelmann disease (CED)

• Pyknodysostisis

• X-linked hypophosphatemia

• Hypophosphatasia

• Central Giant Cell Granulomas

• Kaposiform Lymphangiomatosis

• Gorham Stout Disease

• Duchenne muscular dystrophy

• Osteogenesis Imperfecta