Proteus syndrome: The Elephant Man and beyond

Talk about rare diseases. Only a few hundred people in the world have Proteus syndrome, a bizarre condition in which a mutant gene causes asymmetrical growth of body parts. The syndrome can be horribly disfiguring, as you can see in this illustration of Joseph Merrick, the 19th Century Englishman who became known as the Elephant Man.

Keep clicking to see more images of Merrick, along with modern-day children suffering from Proteus Syndrome...

Merrick's head was 36 inches in circumference, his right wrist 12 inches and one of his fingers 5 inches. His skin was also covered in warty growths, the largest of which exuded an unpleasant smell, according to his surgeon Frederick Treves.

Apart from Merrick's deformities and the lameness in his hip, Treves said that Merrick was in generally good health. Treves presented Merrick at a meeting of the Pathological Society of London but Merrick declined further exams and presentations because they made him feel "like an animal in a cattle market." Still, that didn't stop Merrick from making a living as a human freak show, as he traveled being exhibited as "Half-a-Man and Half-an-Elephant."

When Merrick gained fame for his distorted figure, his condition was not officially diagnosed - but later research pointed his disorder to Proteus syndrome.

As his head and facial deformities continued to grow, Merrick could no longer travel and live on his own. He was admitted into a London hospital, where he required a great deal of care from nursing staff - even though the hospital was not equipped to care for "incurables" such as Merrick.

Merrick died at age 27 from suffocation, caused by the weight of his own head as he lay down. This photograph of Merrick was published in the British Medical Journal with the announcement of his death in 1890.

People with Proteus syndrome are born appearing normal - symptoms typically arise in the first two year's of a child's life. At left is a young boy identified only as Dylan. This photo, courtesy of the Proteus Syndrome Foundation, was taken when Dylan was five years old - now 12, he enjoys football and baseball and plans to attend college to study a sports-related field.

Proteus syndrome often affects fingers - as seen in those of 16-year-old Jordan, pictured left. Jordan's disorder also affects his spine, neck and legs. At 14, he chose to undergo above-the-knee amputations of his legs - which had become severely distorted - and now walks with prosthetic legs. Besides overgrowth of limbs, Proteus syndrome also causes a variety of skin lesions and thickening of the soles of the feet.

In the case of Sebastian, a young boy from Australia, Proteus syndrome has distorted his face and spine. Bone overgrowth can cause orthopedic problems and skin overgrowth can cause cosmetic concerns, but most children and adults with Proteus syndrome have normal intelligence and good general health.

Abby, pictured left at 7 years old, doesn't let Proteus syndrome prevent her from playing sports such as basketball at soccer. Now 13, Abby says she wants to attend college to be a surgeon or a hairdresser.