What is Proteus syndrome? Rare disorder makes teenager difficult to breathe [Representational Image]Creative Commons

A teenage girl in Queensland, Australia is one of about 200 people in the world suffering from a rare overgrowth disorder called Proteus syndrome. The syndrome makes her organs, tissues, and bones grow out of proportion. The condition has progressed so far that the bones in her neck are four times the size of what they should be and are making it difficult for her to breathe.

Tori Punch, 15, was diagnosed with the condition when she was a toddler. Tori's mum Wendy Punch Savill told news.com.au that they are concerned about her as any further growth can close up her airways.

"We're just looking at our options now," she said. Tori attends a special school in Bundaberg.

Symptoms of Proteus syndrome

The rare condition is characterized by overgrowth of the bones, organs, skin, and other tissues. The overgrowth is usually asymmetric, affecting the right and left sides of the body differently. It becomes apparent by the age of 6-18 months and usually gets more severe with age, according to National Institutes of Health.

What happens when someone suffers from the syndrome?

The pattern of overgrowth varies and can affect almost any part of the body. Often, it's the bones in the limbs, skull, and spine that are affected. Different neurological abnormalities also affect the people with Proteus syndrome.

They may also have distinctive facial features like long face, wide nostrils, and an open-mouth expression. It also causes a variety of skin growths like a thick, raised, and deeply grooved lesion.


Other complications of the syndrome include a risk of developing various types of non-cancerous (benign) tumors. It might also lead to deep venous thrombosis (DVT) - a type of blood clot. It occurs mostly in the deep veins of the legs or arms. The clots travel through the bloodstream and can lodge in the lungs, causing a life-threatening complication called a pulmonary embolism.