This condition is one of a spectrum of<unk>  disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). It is essential for the normal development of bones and other tissues that form the body's supportive framework (connective tissues).
Platyspondylic lethal skeletal dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia, Pakistani type
Tricho–rhino–phalangeal syndrome type 2
Microphthalmia, syndromic 12 
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome
Microcephalic osteodysplastic primordial dwarfism type II
Spondyloepimetaphyseal dysplasia, Strudwick type
X-linked recessive chondrodysplasia punctata