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. The overgrowth is usually asymmetrical, meaning it affects the right and left sides of your body differently.

Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Explore symptoms, inheritance, genetics of this condition.

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.

2012年8月9日 · 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 ...

2023年8月4日 · 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).

2018年9月18日 · Proteus syndrome, sometimes called Elephant Man’s disease, is a rare congenital disorder. We’ll explain what causes it, and how it’s diagnosed.

2013年8月26日 · 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.

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 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. The condition is usually not evident until late infancy or early childhood when signs and symptoms start to appear.