Proteus Syndrome Overview
Learn About 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. 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 condition. Overgrowth becomes apparent between the ages of 6 and 18 months and gets more severe with age.
Proteus syndrome results from a mutation in the AKT1 gene. This genetic change is not inherited from a parent; it arises randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and other cells will not. This mixture of cells with and without a genetic mutation is known as mosaicism.
Proteus syndrome is a rare condition with an incidence of less than 1 in 1 million people worldwide. Only a few hundred affected individuals have been reported in the medical literature.
Because Proteus syndrome is caused by AKT1 gene mutations that occur during early development, the disorder is not inherited and does not run in families.
Leslie Biesecker is a Medical Genetics specialist and a Pediatrics provider in Bethesda, Maryland. Dr. Biesecker is rated as an Elite provider by MediFind in the treatment of Proteus Syndrome. His top areas of expertise are Proteus Syndrome, Proteus-Like Syndrome, Acromicric Dysplasia, and Lenz Microphthalmia Syndrome.
Giuseppe Zampino practices in Rome, Italy. Mr. Zampino is rated as a Distinguished expert by MediFind in the treatment of Proteus Syndrome. His top areas of expertise are Proteus Syndrome, Proteus-Like Syndrome, RASopathies, and Cardiofaciocutaneous Syndrome.
Chiara Leoni practices in Rome, Italy. Ms. Leoni is rated as a Distinguished expert by MediFind in the treatment of Proteus Syndrome. Her top areas of expertise are RASopathies, Cardiofaciocutaneous Syndrome, Costello Syndrome, and Ectodermal Dysplasias.
Summary: This study will examine rare congenital disorders that involve malformations and abnormal growth. It will focus on patients with Proteus syndrome, whose physical features are characterized by overgrowth, benign tumors of fatty tissue or blood vessels, asymmetric arms or legs, and large feet with very thick soles. The study will explore the genetic and biochemical cause and course of the disease, t...
Background: Proteus syndrome is a rare overgrowth disorder. Most people begin to have symptoms between 6 months and 2 years of age. There are very few living adults with this disease. There is also no known treatment for it. Researchers want to see if a new drug can slow down or stop overgrowth in people with Proteus syndrome.
Published Date: June 01, 2012
Published By: National Institutes of Health