Orphanet: Rett syndrome

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Rett syndrome

Disease definition

A rare genetic neurological disorder almost exclusively affecting females, characterized by rapid developmental regression in infancy with loss of purposeful hand movements, loss of speech, gait abnormalities, and repetitive stereotypic hand movements. Commonly associated are severe intellectual disability, microcephaly, seizures, breathing abnormalities, disturbed sleeping patterns, scoliosis, and impaired social interactions or social withdrawal, among other symptoms. The disease progresses in stages, with late motor deterioration eventually leading to decreased mobility, muscle weakness, rigidity, spasticity, and dystonia.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: 1-9 / 100 000
  • Inheritance: X-linked dominant 
  • Age of onset: Infancy
  • ICD-10: F84.2
  • OMIM: 312750
  • UMLS: C0035372
  • MeSH: D015518
  • GARD: 5696
  • MedDRA: 10039000

Detailed information

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