Proteus syndrome synonyms

Proteus syndrome, also known as Wiedemann syndrome or elephant man disease, is a rare genetic disorder characterized by the overgrowth of various tissues in the body. This condition was named after the Greek sea god Proteus, who was known for his ability to change shape, as the syndrome presents with highly variable and unpredictable manifestations.

Synonyms: Wiedemann syndrome, elephant man disease

Proteus syndrome is caused by a spontaneous mutation in the AKT1 gene, which leads to abnormal cell growth and tissue development. The condition is not inherited and occurs randomly in individuals with no family history of the syndrome.

The main features of Proteus syndrome include:

• Overgrowth of skin, bones, muscles, and other tissues


• Asymmetry of affected body parts, leading to disproportionate growth


• Benign tumors, such as lipomas and vascular malformations


• Connective tissue abnormalities, including joint hypermobility and scoliosis


• Abnormalities in the central nervous system, such as intellectual disability and seizures

Diagnosing Proteus syndrome can be challenging due to its rarity and variable presentation. Medical professionals rely on clinical evaluation, physical examination, and imaging studies to assess the extent of tissue overgrowth and identify associated complications.

Treatment for Proteus syndrome focuses on managing symptoms and complications:

• Surgical interventions may be necessary to address functional impairments or correct skeletal abnormalities.


• Physical therapy and orthopedic devices can help improve mobility and manage musculoskeletal issues.


• Regular monitoring and management of associated conditions, such as epilepsy or respiratory problems, are essential.


• Psychological support and counseling are crucial for individuals with Proteus syndrome and their families to cope with the emotional and social challenges that may arise.

While there is no cure for Proteus syndrome, ongoing research aims to better understand the underlying mechanisms and develop targeted therapies. Genetic counseling is recommended for affected individuals and their families to provide information about the condition and discuss the potential risks in future pregnancies.

by Diseasemaps