1p36 deletion syndrome

What is 1p36 deletion syndrome?

1p36 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 1 and is characterized by moderate to severe intellectual disability, delayed growth, limited speech ability and distinct facial features including a small head. There may also be vision or hearing problems and abnormalities of the skeleton, heart, gastrointestinal system, kidneys or genitalia.

How common is 1p36 deletion syndrome?

It is estimated that 1p36 deletion syndrome occurs in one in every 5,000 to 10,000 births. The condition is not related to race, nationality, religion or socioeconomic status.

How is 1p36 deletion syndrome treated?

Treatment is limited; symptomatic treatment is the usual available approach. The heart, eye, muscle tone, and swallowing problems may be reduced by specialists in those fields; the earlier the diagnosis and treatment, the more likely these problems will become manageable or minimized. Some clinicians report good results with behavior modification training.