Proteus Syndrome

by Sarah Neville and Makenna Perrault

What is the exact name for the disorder?

The exact name of the disorder is the Proteus Syndrome. It is a disorder where skin or bones are overgrown and usually not functional.

How can someone get Proteus Syndrome?

It can’t be inherited but it’s caused by a AKT1 gene mutation that happens during early development of a child.

What causes Proteus Syndrome? What gene or chromosome is affected by this disorder?

It was caused by a genetic mutation called a AKT1 mutation and it affects the bone, skin and other tissues.

What symptoms, side effects, or harm does it cause to someone's body?

Symptoms can include overgrowth of skin in certain places which normally happen at the ages of 6 to 18 months, some bones being larger than others, and it could cause intellectual disability, seizures, vision loss and abnormal growths and limbs growing longer.

(ex: one leg is longer than the other)

What population is affected by Proteus Syndrome? Can anyone be a candidate for the disorder?

Anyone get get this disease. As long as you have the genetic mutation, it can happen to you.

Are there any treatments, medications, or therapies available to people with this disorder?

There are no treatments, except for amputation of the limb or limbs that are affected by the disease.

Could this disorder have been prevented?

No, the mutation happens during early development and you can’t fix mutations. Also its not noticable until 6 to 18 months and by then it’s too late.