About Rett Syndrome

What is Rett syndrome?

Rett syndrome is a unique developmental disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys.


In 1954, Dr. Andreas Rett, a pediatrician in Vienna, Austria, first noticed two girls as they sat in his waiting room with their mothers. He observed these children making the same repetitive hand-washing motions. Curious, he compared their clinical and developmental histories and discovered they were very similar.

Testing and Diagnosis

Rett syndrome is most often misdiagnosed as autism, cerebral palsy, ornon-specific developmental delay. In the past, making the correct diagnosis called not only for a long list of diagnostic tests and procedures to rule out other disorders, but it also took from months to years waiting to confirm the diagnosis as new symptoms appeared overtime.


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Following is a list of common terms that you may come across in your search for information. Some of these terms are used to describe conditions that explain Rett syndrome. Other terms are used to rule out Rett syndrome.