Rett syndrome (RTT), originally termed
cerebroatrophic hyperammonemia, is a rare genetic postnatal neurological disorder of the
grey matter of the brain that almost exclusively affects females but has also been found in male patients. The clinical features include small hands and feet and a deceleration of the rate of head growth (including
microcephaly in some). Repetitive
stereotyped hand movements, such as wringing and/or repeatedly putting hands into the mouth, are also noted. People with Rett syndrome are prone to gastrointestinal disorders and up to 80% have seizures. They typically have no verbal skills, and about 50% of affected individuals do not walk.
Scoliosis, growth failure, and constipation are very common and can be problematic.