This condition is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. The protein made by this gene forms type II collagen, a molecule found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). Type II collagen is essential for the normal development of bones and other connective tissues. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of this condition. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder.
Spondyloepimetaphyseal dysplasia, Strudwick type
Spondyloepimetaphyseal dysplasia, Pakistani type
Metaphyseal chondrodysplasia Schmid type
Achondrogenesis type 1B
Chondrodysplasia, Grebe type
Achondrogenesis type 2
Spondyloepiphyseal dysplasia congenita
Otospondylomegaepiphyseal dysplasia