What is 1p36 Deletion Syndrome?

1p36 deletion syndrome is a disorder caused by a deletion of a small piece of chromosome 1. Common features of 1p36 deletion syndrome include moderate to severe intellectual disability, delayed growth, limited speech ability, and distinct facial features. Individuals with the condition may also have vision or hearing problems and abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia. Seizures are also commonly observed. Due to differences in deletion sizes between individuals, the symptoms associated with 1p36 deletion syndrome can vary greatly.

How common is 1p36 Deletion Syndrome?

The incidence of 1p36 deletion syndrome in the population is estimated to be 1 in 5,000 live births.

How is 1p36 Deletion Syndrome treated?

There is no cure for 1p36 deletion syndrome. Treatment for the condition is directed at managing an individual's specific symptoms. Common treatments include surgeries to correct birth defects and medications to manage symptoms. Physical and occupational therapy may also be helpful. Individuals must work with various healthcare specialists for interventions based on their needs.

What is the prognosis for an individual with 1p36 Deletion Syndrome?

The prognosis depends on the severity of the symptoms an individual has. Some individuals may not survive childhood, while others may live well into adulthood. Usually, individuals with the condition require both medical and living support their entire lives.


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