Orphanet: Rett syndrome
x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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.

ORPHA:778

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

Article for general public

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.