Skeletal Dysplasias

Skeletal dysplasias, also known as osteochondrodysplasias, are a heterogeneous group of more than 450 disorders characterized by abnormal growth of cartilage or bone.  Some skeletal dysplasias manifest in utero, whereas others are not detected until after birth or in later childhood. Many skeletal dysplasias are lethal before or within 6 weeks of birth, while others do not affect lifespan. Ultrasound findings are often the initial indicators of a skeletal dysplasia, but genetic testing is essential for definitive diagnosis, which can improve clinical care, inform management and treatment decisions,  and assist in determining familial risk of recurrence. Genetic tests, which can be performed prenatally or postnatally, are available for individual genes or as a panel of genes. Panel testing is especially helpful when clinical findings suggest more than one type of skeletal dysplasia, as ordering several individual gene tests can be costly and time consuming. Single-gene tests are appropriate when the causative variant has been previously identified in an affected parent or family member or when a patient’s indications are very specific for a certain type of skeletal dysplasia.

Tabs Content
Content Review: 
February 2019

Last Update: August 2019