Ring 18

Ring 18 is a rare chromosomal disorder where the individual has a ring chromosome 18 instead of the usual linear one. This condition is caused by the fusion of the two ends of chromosome 18, forming a ring-like structure.

Symptoms and Signs[edit | edit source]

The symptoms of Ring 18 vary widely among affected individuals. Common symptoms include growth retardation, intellectual disability, and characteristic facial features such as a prominent forehead, widely spaced eyes, and a small jaw. Some individuals may also have heart defects, kidney abnormalities, and other health problems.

Causes[edit | edit source]

Ring 18 is caused by a structural abnormality of chromosome 18. In most cases, it occurs randomly for no apparent reason (sporadically). However, in some cases, it may be inherited from a parent who carries a ring chromosome.

Diagnosis[edit | edit source]

The diagnosis of Ring 18 is usually made based on a detailed patient history, a thorough clinical evaluation, and specialized tests such as genetic testing and chromosomal analysis.

Treatment[edit | edit source]

There is no cure for Ring 18, and treatment is symptomatic and supportive. This may include physical therapy, special education, and other medical, social, and/or vocational services.

Prognosis[edit | edit source]

The prognosis for individuals with Ring 18 varies depending on the severity of symptoms. Some individuals may live a normal lifespan, while others may have life-threatening complications.