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

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

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

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

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

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.

See Also

• Chromosome 18
• Chromosomal disorders
• Genetic testing