Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6–18 months of age in females. Symptoms include impairments in language and coordination and repetitive movements. Those affected often have slower growth, difficulty walking, and a smaller head size. Complications of Rett syndrome can include seizures, scoliosis, and sleeping problems. The severity of the condition is variable, however.
Rett syndrome is due to a genetic mutation in the MECP2 gene, on the X chromosome. It almost always occurs as a new mutation, with less than one percent of cases being inherited from a person's parents. It occurs almost exclusively in girls; boys who have a similar mutation typically die shortly after birth. Diagnosis is based on the symptoms and can be confirmed with genetic testing.
There is no known cure for Rett syndrome. Treatment is directed at improving symptoms. Anticonvulsants may be used to help with seizures. Special education, physiotherapy, and braces may also be useful. Many of those with the condition live into middle age.
The condition affects about 1 in 8,500 females. It was first described by Austrian pediatrician Andreas Rett in 1966. As his writings were in German, they did not become widely known in the English-speaking world. Swedish pediatrician Bengt Hagberg published an English article in 1983 and named the condition after Rett. In 1999, Lebanese-American physician Huda Zoghbi discovered the mutation that causes the condition.