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Chromosome 22 Central
Support for Disorders of
Chromosome 22

 
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Chromosome 22 Ring

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. The amount of genetic material that is lost when the chromosome breaks will determine how affected the child is. The most common findings in this disorder are intellectual disability, hypotonia (muscle weakness) and lack of coordination.

Other symptoms that have been found in some patients with Chromosome 22 Ring maybe be a smaller or larger nose than normal, large ears, high arched palate, wide-spaced eyes, drooping eyelids. In rarer cases, some patients present underdeveloped toenails, webbed finger or toes, small eyes, long eyelashes and heart defects.

Ring 22 often overlaps in phenotype with 22q13 deletion. You may find support with the Phelan McDermid Syndrome Foundation as well.