Pediatrics at HSS

Skeletal Dysplasia

Skeletal Dysplasia

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. 

Skeletal dysplasias 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.

For more information, please see The Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias.

Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) or "brittle bone disease" is a congenital disorder in which children are born with very brittle bones and resulting skeletal dysplasia.

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