Proteus Syndrome - Symptoms, Causes, Treatment | NORD
Proteus Syndrome - Symptoms, Causes, Treatment | NORD
Nov 20, 2023
rarediseases.org
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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