COVID-19 UPDATE: We are still accepting cases at this time. Please contact our Program Coordinator before submitting your case at [email protected].

The International Skeletal Dysplasia Registry (ISDR) is

  • 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

These materials are used by 1) the researchers of the ISDR and 2) ISDR scientific collaborators to

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

Healthcare Professionals: To become an ISDR scientific collaborator, go to Become an ISDR Collaborator

Make a Gift

The International Skeletal Dysplasia Registry (ISDR), which has moved from Cedars-Sinai to UCLA, is a long-term research project that was established in 1970 to assist in the diagnosis, management, and etiology of the skeletal dysplasias.

Your gift to support the ISDR allows us to continue to offer this service and perform the research necessary to enhance our ability to diagnose and treat the many forms of skeletal dysplasia.