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Clinical

Syndromes: Rett syndrome

A series about conditions with common symptoms that constitute syndromes
Rett syndrome

A series about conditions with common symptoms that constitute syndromes

Rett syndrome is a neurodevelopmental disorder which, in most cases, is caused by mutations in the X-linked gene MECP2 (Amir et al 1999). The syndrome is almost exclusively reported in girls and leads to severe or profound developmental disabilities and premature death aged 12 to 40 years (Akbarian and Worcester 2002, Neul et al 2010).

The syndrome has been reported in boys (Reichow et al 2015), then described as MECP2-related severe neonatal encephalopathy. However, most males die in utero or shortly after birth. The prevalence of Rett syndrome for girls is, including prevalence numbers for the UK, about one per 10,000-15,000 births (Leonard et al 1997, Fombonne et al 2003).

Girls with the syndrome have

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