Causes, Prevention Of Dwarfism Are Goals Of International Skeletal Dysplasia Registry At Cedars-Sinai Medical Center

April 12, 1999

LOS ANGELES (April 12, 1999) -- Uncovering the causes and, eventually, a "cure" for skeletal dysplasias -- a group of more than 200 disorders that cause dwarfism - are the goals behind the International Skeletal Dysplasia Registry at Cedars-Sinai Medical Center. The registry is the world's largest referral center for the diagnosis and management of skeletal dysplasias, which affect one in 5,000 to 10,000 people.

"Information gathered through the registry is allowing us to determine the causes of the condition and to develop methods of prevention and treatment," explained David L. Rimoin, M.D., Ph.D., director of the registry as well as the Skeletal Dysplasia Program and the Medical Genetics-Birth Defects Center at Cedars-Sinai. "The eventual hope is identifying a means of 'masking,' or undoing, the genetic defect to eliminate this disorder."

One of only a handful of physicians involved in the field, Dr. Rimoin began the registry in the early 1970s as a means of researching and collecting information on the disorder, which can ALSO result in orthopedic, eye and neurological problems.

"When I first got involved in this field 30 years ago, nothing was really known about skeletal dysplasia beyond the physical characteristics of those with the disorder and how it appeared on X-rays," said Dr. Rimoin, who is also Steven Spielberg Chairman of Pediatrics and director of the Ahmanson Pediatric Center. "Very few physicians were involved in the study of skeletal dysplasias, so there was little information on the pathology or cause of the defects. Some of the disorders are very rare so you need a number of samples, and I started to collect information on cases throughout the world."

The International Skeletal Dysplasia Registry, part of a National Institute of Health project, studies the natural history, treatment and basic causes of skeletal dysplasias. The registry works with physicians worldwide to diagnose cases that are submitted and to collaborate with scientists investigating these disorders. The registry contains data on 8,000 cases - 500 to 600 new cases are recorded each year - with patient information from 40 countries supplied by approximately 1,500 referring physicians. The registry accepts radiographs, clinical history, histology specimens and other tissues and samples for diagnostic purposes and research.

"Now we have developed a large registry of clinical samples from patients, and this research material is allowing us to find, identify and treat conditions such as achondroplasia, the most common form of dwarfism," explained Dr. Rimoin, who works with a team of other specialists in the Skeletal Dysplasia Program. The clinic utilizes a network of experts in ENT, orthopedics, neurosurgery and neurology to treat many dwarfism patients each year. The team is developing limb-lengthening surgery and other forms of treatment.

Dr. Rimoin's interest in the condition stemmed from research conducted in the mid-1960s at Johns Hopkins University School of Medicine, where he earned a doctorate in human genetics and completed residency training.

"We discovered a form of growth hormone deficiency that caused dwarfism," he recalled. "I started attending meetings of the Little People of America, an organization of dwarfs, in an effort to look further into hormonal aspects. I met a lot of individuals with bone problems, and they kept asking me, 'Why don't you pay attention to us?' "

In the last few years, we have been able to identify genes that result in many of these disorders, said Dr. Rimoin. "Through genetic testing, family members of individuals with skeletal dysplasia can determine whether they carry the gene, which allows couples to make informed decisions when planning a pregnancy. Also, some of these conditions can now be diagnosed prenatally through amniocentesis."

In addition to archiving specimens for research, a primary function of the registry to provide definitive diagnoses. The registry can be reached at 310-423-9915 ; information is also available on the registry's website: www.csmc.edu/genetics/skeldys.
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Cedars-Sinai Medical Center

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