Musculoskeletal Disorders

International Skeletal Dysplasia Registry

Identifying the Genes involved in the Skeletal Dysplasias and Developing New Therapies to Improve Patient Care

We work with families, physicians, and researchers from around the world to classify skeletal disorders radiographically, histologically, and genetically. 

Understanding the genetic defect and biological pathways involved in specific skeletal disorders is assisting in the development of diagnoses, treatments, and improved patient care.

• A research Registry studying inherited skeletal disorders.
• An archive of materials from families with one or more members diagnosed with a skeletal dysplasia including:
  • Radiographs
  • Medical records
  • Clinical photographs
  • Blood for establishing cell lines and DNA isolation
  • Cultured cells (including fibroblasts, chondrocytes, lymphoblastoid cells, and amniocytes)
  • DNA
  • Fresh tissue for cell culture, histology, and electron microscopy
  • Histology blocks and slides

• Assist in the diagnosis of patients
• Identify the causative genes
• Study the biological pathways involved
• Develop potential treatments for the skeletal dysplasias

For more information please visit the UCLA page on skeletal disorders.

Bone Disorders Program

The Bone Program at UCLA Mattel Children’s Hospital brings together expertise from a number of disciplines to treat pediatric patients with primary bone disorders and those suffering other medical conditions that affect their bones. Our expert team offers biochemical analysis, genetic testing, imaging and bone biopsy in the diagnosis and management of bone disease. We are one of the few centers in the nation equipped to perform the demanding analysis of bone biopsy samples. Some of the conditions we evaluate and treat include:

• Childhood osteoroposis
• Osteogenesis imperfecta
• Rickets
• Complications from chronic kidney disease

Contact Us

Appointments & Referrals: (310) 825-0867