In 1954, Dr. Andreas Rett, a pediatrician in Vienna, Austria, observed two girls making the same repetitive hand-washing motions. He compared their clinical and developmental histories and found they were very similar. Dr. Rett had six other girls with a similar behavior, so he made a film of the girls and traveled throughout Europe seeking other children with these symptoms. He published his finding in several German medical journals in 1966.
Meanwhile, in 1960, Dr. Bengt Hagberg became aware of the similar symptoms in some of the girls and he wrote an article in 1982 on Rett syndrome. This report finally raised the profile of Rett syndrome and was a breakthrough in communicating details of the disease. The authors honored its pioneering researcher by naming is Rett syndrome.
A major breakthrough occurred in 1999, when a research fellow at Baylor College of Medicine (Houston, TX) named Ruthie Amir discovered MECP2, the gene that, when mutated, causes Rett syndrome. The discovery of the gene located at the Xq28 site on the X chromosome was a triumph for the Baylor team, led by Huda Y. Zoghbi, MD. This discovery proved that Rett syndrome is an X-linked dominant disorder which explains why it is usually found in girls.