How often does Rett syndrome occur?
While many health professionals may not be familiar with RS, it is a relatively frequent cause of delayed development in girls. The prevalence rate in various countries is from 1:10,000 to 1:23,000 live female births, making it three times more common in females than phenylketonuria (PKU), a congenital error of metabolism for which every newborn in the USA is tested. The incidence rate is about 1:10,000 female births. However, Rett syndrome has most often been misdiagnosed as autism, cerebral palsy or non–specific developmental delay.