Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision.

Severe nearsightedness (high myopia) and detachment of the retina (the part of the eye that detects light and color) are also common.

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).

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.

[citation needed] This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder.