18p-

18p- is a condition that affects the short arm (p) of chromosome 18. The condition is also known as 18p deletion syndrome. It is characterized by intellectual disability, growth delays, and distinctive facial features. The severity of the condition and the associated symptoms can vary widely among affected individuals.

Symptoms

The most common symptoms of 18p- include intellectual disability, growth delay, and distinctive facial features. Other symptoms can include hearing loss, heart defects, and hypotonia (low muscle tone). Some affected individuals may also have behavioral problems, including attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD).

Causes

18p- is caused by a deletion of genetic material from the short arm of chromosome 18. The size of the deletion can vary among affected individuals. In most cases, the condition occurs randomly and is not inherited from the parents.

Diagnosis

The diagnosis of 18p- is usually made based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for 18p-. Treatment is focused on managing the symptoms and improving the quality of life for affected individuals. This can include physical therapy, occupational therapy, and speech therapy for developmental delays, as well as medication for behavioral problems.

See also

• Chromosome deletion
• Genetic disorder
• Chromosomal abnormalities

References

18p- Resources
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