A to Z of syndromes

A-Z of syndromes: Rett syndrome

How to recognise and support children who have this rare developmental and neurological disorder

How to recognise and support children who have this rare developmental and neurological disorder

A rare genetic, developmental and neurological disorder that affects brain development, Rett syndrome was first identified in 1966 by Austrian geneticist Andreas Rett. The syndrome can result in severe mental and physical disability. It is rarely seen in males, but when it does occur it is a serious condition. It has been estimated to affect about one in 12,000 girls.

There is usually no family history and neither of the parents are carriers. Most children with the syndrome will have acquired it because of a spontaneous mutation that changed the DNA of a gene present on the X chromosome. The changes on the MECP2 gene alters the instructions for producing a specific protein which is vital for brain development.

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