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Proteus syndrome is an overgrowth disorder caused by a rare genetic mosaicism. A genetic mutation during embryonic development gives rise to overgrowth in a subset of the individual's cells. In 2011 researchers determined the cause of Proteus syndrome.
- What Are The Signs and Symptoms of Proteus Syndrome?
- What Complications Can Develop Due to Proteus Syndrome?
- How Do You Get Proteus Syndrome?
The first signs of Proteus syndrome usually appear between 6 months and 18 months of age when asymmetrical overgrowth begins. Asymmetric means it may affect one side of your body more than the other. The pattern and severity of overgrowth can vary greatly. It can affect almost any part of your body, including your bones, skin, organs and tissues. T...
The most life-threatening complication of Proteus syndrome is a type of blood clot called a deep vein thrombosis (DVT). DVTs affect the deep veins of your legs or arms most often, causing pain and swelling. If a DVT travels through your bloodstream to your lungs, it can cause a dangerous condition called pulmonary embolism. People with Proteus synd...
A change (mutation) in the AKT1 gene causes Proteus syndrome. The AKT1gene helps control cell growth and division. A mutation in this gene disrupts a cell’s ability to control its own growth. This allows the cell to grow and divide abnormally, leading to the overgrowth traits seen in Proteus syndrome. Proteus syndrome isn’t an inherited condition a...
Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Explore symptoms, inheritance, genetics of this condition.
Aug 9, 2012 · Proteus syndrome (PS) is characterized by progressive segmental or patchy overgrowth most commonly affecting the skeleton, skin, adipose, and central nervous systems.
- Leslie G Biesecker, Julie C Sapp
- 2023/05/25
Overview. Proteus syndrome is an extremely rare but chronic, or long-term, condition. It causes an overgrowth of skin, bones, blood vessels, and fatty and connective tissue....
Proteus syndrome is an extremely rare genetic disorder that is characterised by the abnormal growth of bones and blood vessels, and various skin lesions including lipomas, epidermal naevi and café au lait macules.
A rare complex overgrowth syndrome characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. ORPHA:744. Classification level: Disorder. Synonym (s): Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome. Prevalence: <1 / 1 000 000. Inheritance: Not applicable. Age of onset: Infancy. ICD-10: Q87.3.
