Proteus syndrome

Rare card · No. 34395

Proteus syndrome is a rare genetic disorder that can cause tissue overgrowth involving all three embryonic lineages. Patients with Proteus syndrome tend to have an increased risk of embryonic tumor development. The clinical symptoms and radiographic findings of Proteus syndrome are highly variable, as are its orthopedic manifestations. Just over 200 cases have been confirmed worldwide, with estimates that about 120 people are currently alive with the condition. As attenuated forms of the disease may exist, there could be many people with Proteus syndrome who remain undiagnosed. Those most readily diagnosed are also the most severely disfigured. The syndrome is named after the Greek sea god Proteus, who could change his shape. The condition appears to have been first described in the American medical literature by Samia Temtamy and John Rogers in 1976. American-born, Canadian Michael Cohen described what is now considered Proteus syndrome in 1979.

Read on Wikipedia · Image Leslie G Biesecker, Public domain