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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.
Proteus syndrome is a rare genetic condition that causes excessive growth of your bones, skin, organs and/or tissues. The disease causes parts of your body to grow out of proportion with the rest of it.
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. In most individuals PS has modest or no manifestations at birth, develops and progresses rapidly beginning in the toddler period, and relentlessly progresses through childhood ...
Aug 4, 2023 · Proteus syndrome is caused by a variant in a growth regulatory gene called AKT1 that occurs after fertilization (somatic mutation). Affected persons have some cells with a normal copy of this regulatory gene and some cells with the abnormal gene (mosaic).
Proteus syndrome presents in a wide range of severity and anatomic distribution. Individuals usually have no signs or symptoms at birth but onset of overgrowth typically occurs in the first 2 years of life.
Proteus syndrome is characterized by excessive growth of a part or portion of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Newborns with Proteus syndrome have few or no signs of the disorder.
Feb 20, 2024 · Proteus syndrome is one of the rarest genetic conditions in the world. The syndrome causes abnormal overgrowth in certain parts of the body. It is commonly called the Elephant Man disease....
Aug 26, 2013 · Proteus syndrome is a rare condition that can cause physical differences and changes over time. Many parents and families are frustrated by how long it can take to get a diagnosis and how hard it can be to find a doctor with experience treating this condition.
Oct 26, 2023 · Proteus syndrome is caused by a somatic mutation rather than a germline one, meaning that only cells descended from the affected cell will display symptoms. This means that individuals...
