OSTEOCHONDRODYSPLASIA

                                                                        www.icp.ucl.ac.be/vikkula/osteochon.html

"'With genetic linkage analysis we have identified that osteoarthrosis may be linked to the gene encoding type II collagen and that mutations in type II and type XI collagen can cause osteochondrodysplasias (Vikkula et al.,1993a, 1993b, 1995)'" - www.icp.ucl.ac.be/vikkula/osteochon.html

What is Osteochondrodysplasia?

•   Osteo - bone  chondro - cartilage  dysplasia - maldevelopment

•   Osteochrondrodysplasia is a genetic skeletal disorder which affects the bone and cartilage development.

•   Many bones in the body are first formed as cartilage and then are gradually replaced by bone early in life.  Irregularities in the cartilage-replacing phase will result in abnormally sized or shaped bones.  The term "osteochondrodysplasia" describes disorders which are characterized by abnormal growth of cartilage and bone. These disorders typically result in skeletal dwarfism.

•   Most osteochondrodysplasias affect the bones of the limbs, where the limbs are short relative to body length.  Also, some forms affect the formation and growth of vertebrae, resulting in a body which has an abnormally short stature. 

Five Types of Osteochondrodysplastic Dwarfism

1) Achondroplasia and Hypochondroplasia

2) Pseudoachondroplasia

3) Chondrodysplasia Punctata - Rhizomelic & Conradi-Hünermann

4) Chondroectodermal Dysplasia (Ellis-van Creveld syndrome)

5) Multiple Epiphyseal Dysplasia

Treatments and Procedures

           References