Skeletal dysplasia is one of a large contingent of genetic diseases in which the bony skeleton is abnormally formed during development. Achondroplastic dwarfism is one example of skeletal dyplasia, and is a genetic disorder of bone growth causing disproportionately short limbs. While dwarfism is inherited as a dominant trait, the majority of cases are due to new genetic mutations. The diagnosis of dwarfing and skeletal dysplasia can be based on typical physical features and the hallmarks are evident at birth.
Treatment for Dwarfing and Skeletal Dysplasia
Orthopaedic procedures may be performed for lengthening of the limb bones and correction of bowed legs (usually after full growth has been achieved).
Surgery (lumbar laminectomy) is also indicated when spinal stenosis (narrowing) causes symptoms, which tends to be evident in young adults.