Beare-Stevenson Cutis Gyrata Syndrome (BSTVS)

Beare-Stevenson Cutis Gyrata Syndrome, also known as cutis gyrata syndrome of beare and stevenson, is related to acanthosis nigricans and hydrocephalus, and has symptoms including respiratory distress. An important gene associated with Beare-Stevenson Cutis Gyrata Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are PIP3 activates AKT signaling and Downstream signaling of activated FGFR2. Affiliated tissues include skin and bone, and related phenotypes are ptosis and depressed nasal bridge.