Proteus Syndrome

Justin Brantley

Proteus Syndrome

    Proteus Syndrome is an overgrowth of one or more body parts or in some cases organs. Sometimes bones in the limbs, skull and spine are often affected also. Researchers that study this birth defect believe that some people that are diagnosed with Proteus Syndrome may not actually have it because some other birth defects have the same symptoms as Proteus Syndrome

* Proteus Syndrome is a rare condition characterized by overgrowth of the bones, skin and other tissues.

*Organs and tissues affected by the disease grow out of proportion to the rest of the body.

*Patterns of overgrowth vary greatly but can affect almost any part of the body.

*People with Proteus Syndrome can have neurological abnormalities, including intellectual disability, seizures, and vision loss.


Mosaic alteration, or mutation in a gene called AKT1


Droopy eye lids, thin/long face, skin may be rough or have a raised appearance, mouth may remain open while resting, nose may be upturned with wide open nostrils, nasal bridge can be lower than normal.


There is no known treatment for this birth defect


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