Chromosome 22 Ring is a very rare disorder which is caused by the breakage of chromosome 22 at each of its ends, and then reconnecting to form a ring. Individuals with chromosome ring 22 also have a risk of developing neurofibromatosis type 2 (NF2), which results in the growth of non-cancerous tumours in the nervous system.

The most common findings in this disorder are intellectual disability, hypotonia (muscle weakness) and lack of coordination along with speech delay. Physical features are typically mild. Delay in growth can be seen.

For the most up to date overview of this disorder, please see NORD's article on Chromosome 22 Ring, updated late 2021.

You can also download a helpful pamplet from Unique.

See the Phelan McDermid Syndrome Foundation for up to date information and research, as well as additional support.

There is also a specific Facebook group for individuals supporting those with Chromosome 22 Ring.