Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital), also known as COL2A1, is a human gene that provides instructions for the production of the pro-alpha1(II) chain of type II collagen.

Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and occasionally problems with vision and hearing. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends of bones (epiphyses), and that it is present from birth (congenital). The signs and symptoms of spondyloepiphyseal dysplasia congenita are similar to, but milder than, the related skeletal disorders achondrogenesis type 2 and hypochondrogenesis. Spondyloepiphyseal dysplasia congenita is a subtype of collagenopathy, types II and XI.

Spondyloepiphyseal dysplasia congenita 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.

Spondyloepiphyseal dysplasia congenita is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder.

This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene.

Type II collagen, which adds structure and strength to connective tissues, is found primarily in cartilage, the jelly-like substance that fills the eyeball (the vitreous), the inner ear, and the center portion of the discs between the vertebrae in the spine (nucleus pulposus). Three pro-alpha1(II) chains twist together to form a triple-stranded, ropelike procollagen molecule. These procollagen molecules must be processed by enzymes in the cell. Once these molecules are processed, they leave the cell and arrange themselves into long, thin fibrils that cross-link to one another in the spaces around cells. The cross-linkages result in the formation of very strong mature type II collagen fibers.

The COL2A1 gene is located on the long (q) arm of chromosome 12 between positions 13.11 and 13.2, from base pair 46,653,017 to base pair 46,684,527.

Clinicians will often follow a diagnostic checklist to test whether or not an individual is exhibiting behaviors and characteristics that may lead to a diagnosis of ARFID. Clinicians will look at the variety of foods an individual consumes, as well as the portion size of accepted foods. They will also question how long the avoidance or refusal of particular foods has lasted, and if there are any associated medical concerns, such as malnutrition. Unlike most eating disorders, there may be a higher rate of ARFID in young boys, than there is in young girls.

Children can benefit from a four stage in-home treatment program based on the principles of systematic desensitization. The four stages of the treatment are record, reward, relax and review.

- In the record stage, children are encouraged to keep a log of their typical eating behaviors without attempting to change their habits as well as their cognitive feelings.

- The reward stage involves systematic desensitization. Children create a list of foods that they might like to try eating some day. These foods may not be drastically different from their normal diet, but perhaps a familiar food prepared in a different way. Because the goal is for the children to try new foods, children are rewarded when they sample new foods.

- The relaxation stage is most important for those children that suffer severe anxiety when presented with unfavorable foods. Children learn to relax to reduce the anxiety that they feel. Children work through a list of anxiety-producing stimuli and can create a story line with relaxing imagery and scenarios. Often these stories can also include the introduction of new foods with the help of a real person or fantasy person. Children then listen to this story before eating new foods as a way to imagine themselves participating in an expanded variety of foods while relaxed.

- The final stage, review, is important to keep track of the child's progress. It is important to include both one-on-one sessions with the child, as well as with the parent in order to get a clear picture of how the child is progressing and if the relaxation techniques are working.