Skeletal dysplasias include over 450 different types of genetic conditions, often with considerable phenotypic overlap. This group of disorders is characterized by differences in growth patterns due to bone development and maintenance. Identifying the molecular cause is often challenging but important for optimized clinical care, future medical management, and informing familial recurrence.
What steps can be taken to arrive at a precise diagnosis? What should healthcare providers look for in a genetic test for their patient with a suspicion of skeletal dysplasia? Take a look at our infographic for a clinical overview of these conditions, genetic testing considerations, and to learn more about research in this field.