Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces

Secreted, extracellular space, extracellular matrix

Spondyloepiphyseal dysplasia congenital type

Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems.

May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils

Secreted, extracellular space, extracellular matrix

Otospondylomegaepiphyseal dysplasia, autosomal dominant

An autosomal dominant form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis.