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The Elephant Man, Joseph Merrick, and His Very Rare Disease
Joseph Merrick, known as the Elephant Man was born in 1863 with no symptoms of what would change his life forever. Born with a disease so rare it only affects one in one million. Known as a mutation of the gene AKT1, today called PROTEUS SYNDROME.
Feb 18, 2022
Proteus syndrome Symptoms
Proteus Syndrome - Symptoms, Causes, Treatment | NORD
rarediseases.org
Nov 20, 2023
0:04
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
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