Home - Genetic Disorders of the Skeleton

Skeletal dysplasias (also known as bone dysplasias, osteo-, osteochondro- or chondrodysplasias, or dysostoses) are genetic conditions affecting growth and development of the skeleton. There is a great number of different conditions. The clinical consequences may range from mild shortness without other complications to severely reduced stature ("dwarfism") with bone deformity and dysproportion between segments of the body. Because skeletal dysplasias often present as short stature, the differential diagnosis must be made with other childhood disorders that may cause short stature, such as endocrine, intestinal or renal disorders.

Although reduced stature or bone deformity may be most evident to the eye, other organs or tissues (such as the nervous system, the inner ear, the eye, the joints, the muscles, the liver, the kidney, or the immune system, just to name some) can be affected in individuals with skeletal dysplasias, depending on what the precise diagnosis is.
Obtaining an accurate diagnosis is important for management as well as for genetic counseling. Even if for most conditions the possibilities for treatment are limited, many complications can be avoided, or their onset delayed, by means of physical therapy, orthopedics, or surgery. Health supervision by a physician knowledgeable of skeletal dysplasias, and who may refer to the appropriate specialist, is important. Counseling on the psychological and social aspects related to short stature is also helpful. Since most skeletal dysplasias are recognized at birth or during childhood, the relevant expertise is usually found in Pediatrics and Genetics centers.


* View the Nosology and Classification of Genetic Skeletal Disorders 2015 (PDF file)

* View the Molecular-Pathogenetic Classification of Skeletal Dysplasias (PDF File)

* Go to the Web site of the International Skeletal Dysplasia Society

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