Hospital for Special Surgery to Host Symposium on the Surgical, Genetic and Medical Management of Skeletal Dysplasias (e.g., abnormal bone growth)

Skeletal dysplasia is an umbrella term for a group of more than 200 genetic conditions that are characterized by differences in the size and shape of the limbs, trunk, and/or skull, all of which can impact stature.

Although individually rare, collectively there are a significant number of individuals with the various dysplasias. It is estimated that 14,000 to 27,000 babies in the United States are born each year with some form of skeletal dysplasia.  Specialized treatment is available in a limited number of centers across the country.
 
Skeletal dysplasias, including dwarfism, are frequently associated with a range of orthopedic problems. These may include joint dislocation and scoliosis, an abnormal curvature of the spine. Other health concerns may include respiratory, neurological, otolaryngologic, rheumatologic, gastroenterologic, endocrine, and/or cardiac issues.  In addition, a range of psychosocial challenges can develop and require assessment and care.
 
Some patients may not need surgery immediately but will eventually as they age and joints wear out. Others are too old for surgery.  Fundamentally, dysplasias are complex. They require multidisciplinary management targeted for the needs of the individual and/or family.

"Health-care professionals working with children and adults need to understand the radiological, clinical and genetic classification and diagnosis of skeletal dysplasias," said Dr. Cathleen L. Raggio. "They also need to understand what services are available for individuals with skeletal dysplasia over the course of their lifespan.  This program will educate professionals on the holistic multidisciplinary care of both patients and their families."
 
The Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias at Hospital for Special Surgery has developed a new treatment model that provides centralized care so patients do not have to travel from specialist to specialist to receive care. Instead, it offers patients one location with a continuum of clinical services that include genetic evaluation, diagnosis, and counseling; orthopedic screening and treatment; psychosocial assessment; and referrals for specialty medical services.
 
The care is coordinated so that patients can see all of their physicians on one day and in one place, minimizing the burden of scheduling and traveling to multiple medical appointments.
 
The Center's staff has developed multifaceted educational programs about skeletal dysplasias for individuals with these disorders and their families, physicians, residents, fellows, social workers, nurses, therapists, and the public at large.