PROTEUS SYNDROME
Proteus syndrome is a rare genetic disorder characterized by overgrowth of various tissues of the body. CAUSE: This condition is not usually inherited, and is caused because of a sudden mutation in gene called AKT1 during embryo formation, leading to mosaicism i.e. some cells are mutated while some are normal in the individual. This disproportionate, asymmetric overgrowth occurs in a mosaic or random “patchy” pattern of affected and unaffected areas. PRESENTATION : People affected suffer from neurological anomaly, including intellectual disability, vision loss, and seizures. TREATMENT: Treatment may include surgical and physiotherapy intervention. The patient is closely monitored for blood clots. The condition can affect quality of life, but people with Proteus syndrome can age normally with medical intervention and monitoring. By: https://www.google.com/amp/s/geneticdisorders.wordpress.com/2015/09/01/proteus-syndrome/amp/
Joseph Merrick aka The Elephant Man is pictured above. He lived in England during the late 1800's.
