Information for Patients and Families

Skeletal Dysplasias are a group of rare genetic disorders that affect the normal development of the skeleton. Symptoms can include short stature, skeletal deformities (e.g. scoliosis, leg bowing) There are more than 400 different types of skeletal dysplasias, each with their unique set of medical problems.

Genes are the recipes that tell our body how to develop and function. If a gene contains an error, some parts of our body might develop or function differently. If a gene important for skeletal development or function contains an error, the skeleton will develop or function abnormally. If one of these genes gets damaged in a person, the skeleton of the affected person will develop or function differently.

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• andreas.zankl@sydney.edu.au
• (02) 9845 3210
• The Children's Hospital at Westmead
  Sydney, NSW 2145
  Australia