Rare Genetic Disorders That Affect the Skeleton

Genetic disorders that have an effect on connective tissue and especially skeletal parts are rarely encountered by orthopaedic surgeons. The patients are sometimes mildly altered in function and structure but may also present with some severe alterations which not only cause severe disability and deformity, but also mental retardation and early death. Up to this date, there is limited knowledge as to the genetic errors, the causation of localized soft tissue and skeletal alterations and only very limited information as to possible treatment.

The purpose of introducing the data for these 14 diseases is to help caretakers and especially orthopaedic surgeons identify the patients based on their clinical presentations and also perform research to assess the causes of the diseases and possibly develop treatment protocols which may help the patients survive and improve their function.