International Skeletal Dysplasia Registry
Established in 1970, the International Skeletal Dysplasia Registry at Cedars-Sinai Medical Center is a referral center for diagnostic opinions. The Registry also collects information for research into the diagnosis, management and etiology of the skeletal dysplasias. Partially supported by a grant from the National Institutes of Health and part of the Steven Spielberg Pediatric Research Center, it is the largest such registry in the world.
For four decades, the investigative experts at Cedars-Sinai have been working with physicians, patients and families to precisely diagnose bone and cartilage disorders through their clinical consultation service. They also offer the opportunity to participate in research as they pursue the identification of the genetic mutations and metabolic disorders that lead to skeletal dysplasias.
Skeletal dysplasias are bone and cartilage disorders that affect the growth and development of the skeleton and result in short stature and dwarfism. Most of these are genetic conditions. With early intervention from specialists, patients can avoid or minimize the many complications associated with these disorders. Research on these disorders can also contribute to better counseling, diagnostic options and understanding of skeletal dysplasias.
The International Skeletal Dysplasia Registry is supported in part by:
- National Institutes of Health
- Lazard Capital Markets
- Cedars-Sinai Sports Spectacular
- Steven Speilberg Pediatric Research Center
