PIK3CA-related overgrowth spectrum is a term used to describe a group of rare genetic disorders that cause an overgrowth of body parts. This overgrowth of body parts is caused by mutations in the PIK3CA gene that assists in cell growth.

Symptoms of PIK3CA-related overgrowth spectrum disorders depend on the subtype. Symptoms of PIK3CA-related overgrown spectrum disorders can include overgrowth of muscles, fingers, toes, arms, legs, trunk, or brain; intellectual disability; autism; language disorders; seizures; blood clots; lip malformation; face and neck malformation; fatty tissue overgrowth; vascular malformations; moles; bone abnormalities; port-wine stains; prominent veins; pulmonary embolism; scoliosis; spinal cord compression; kidney abnormalities; gastrointestinal bleeding; genitourinary tract bleeding; heart failure; extra fingers or toes; lipomas; enlarged teeth; enlarged tongue; neuromas; lymphatic malformations; and nerve disorders.

Treatment for PIK3CA-related overgrowth spectrum disorders depends on the subtype and the symptoms. Treatments for PIK3CA-related overgrowth spectrum disorders may include targeted therapy, such as alpelisib; laser ablation; sclerotherapy; anticoagulation therapy; surgery; orthotics; brain shunt placement; anti-seizure medications; physical, occupational, and speech therapy; and special education.