What Is PIK3CA-Related Overgrowth Spectrum (PROS)?

PIK3CA-related overgrowth spectrum (PROS) is a rare genetic condition characterized by overgrowth of various body parts. It is caused by mutations in the PIK3CA gene, which plays a role in regulating cell growth and division.

PROS is a spectrum of conditions, meaning that the severity and symptoms of the disorder can vary widely from person to person. Some of the common manifestations of PROS include:

Overgrowth of body parts, such as the head, limbs, and trunk

Macrocephaly (enlarged head)

Wide-set eyes

Prominent forehead

Full cheeks

Broad nose

Long philtrum (the area between the nose and upper lip)

Thickened lips

Large tongue

Dental anomalies

Ears that are low-set and rotated posteriorly

Short stature

Obesity

Intellectual disability

Epilepsy

Autism spectrum disorder

Other medical problems, such as heart defects, kidney problems, and respiratory problems

PROS is a relatively newly recognized condition, and its exact prevalence is unknown. However, it is estimated to affect approximately 1 in 100,000 people.

There is currently no cure for PROS, but there are treatments available to help manage the symptoms. Treatment options may include surgery to correct overgrowth of body parts, medications to manage seizures and other medical problems, and special education services to help with intellectual disability.

If you or your child has symptoms of PROS, it is important to see a doctor for evaluation. Early diagnosis and treatment can help improve the quality of life for people with this condition.