6.6K views · 47 reactions | WATCH: Bundaberg teenager Tori Punch celebrated her 16th Birthday this weekend. But Tori has an incredibly rare medical condition called Proteus Syndrome, which causes parts of her body to grow out of proportion. Her family now is fighting to get access to a potentially life-saving drug trial from the US. | ABC Wide Bay | Facebook

Proteus syndrome is a rare genetic disorder caused by a mutation in the AKT1 gene, leading to asymmetric and disproportionate overgrowth of bones, skin, muscles, fatty tissues, and blood and lymphatic vessels. This mosaic condition results in irregular and uneven growth patterns, causing significant physical deformities. A skull of a person with Proteus syndrome would exhibit pronounced and irregular bony overgrowths, such as thickened cranial bones and asymmetrical facial structures. Joseph Mer