A rare genetic disorder characterized by abnormal bone development.
* Abnormal bone development * Improper limb growth * Bone deformities * Enchondromas * Reduced bone growth
* Kniest dysplasia * Achondrogenesis type 1B * Metatropic dwarfism type 1 * Short rib-polydactyly syndrome type 3 * Warfarin
The deformity can be corrected by osteotomy and the shortening can be addressed by leg lengthening in the knowledge that the bones will heal normally. Differential diagnoses of fibrous dysplasia and diaphyseal aclasis need to be considered. It is recognised that malignancy can occur but it is extremely rare. Maffucci syndrome in which there are cutaneous haemangionates associated with the enchondromas does carry a definite risk of malignancy. However, this is a separate and even rarer condition.