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Rett syndrome (RS)

Authoring team

Rett syndrome is a sporadic pervasive developmental disorder which is observed almost exclusively in females. (1,2)

The prognosis is poor, with symptomatic relief being the only treatment option.

Rett syndrome (RS) is a neurodevelopmental syndrome affecting almost exclusively female children and first appearing at 7–18 months

  • prior to the onset of symptoms, development appears normal
  • after symptomatic onset patient development deteriorates rapidly and severe dementia, autism and other features develop
  • the locus for inheritance of this condition is Xq28
    • RS results from mutations in the in the methyl-CpG-binding protein-2 gene (MECP2)
    • inherited as an X-linked dominant
    • most cases are sporadic; de novo mutations occur almost exclusively on the paternally derived X chromosome
    • prevalence 1 in 10,000 to 1 in 15,000 female births
  • is not a neurodegenerative condition, rather it is a progressive disorder involving multisystem symptom evolution over time
  • 70% of patients with RS live to at least 50 years of age

  • features associated with RS include:
    • short stature
    • cachexia
    • head circumference is normal at birth but there is deceleration of head growth
      • growth of the head decelerates between six months and four years and consequent microcephaly
    • bruxism of the teeth
    • cardiological features include prolonged QTc interval and T-wave abnormalities
    • respiratory features include
      • periodic apnoea whilst awake
      • breath holding
      • intermittent hyperventilation
    • abdominal features include
      • constipation
      • gastroesophageal reflux
    • skeletal abnormalities include scoliosis; kyphosis
    • patients have small and cold feet
    • neurological features
      • development is normal until until 6-18 months
      • subsequent development of mental retardation, spasticity
      • seizures develop in up to 75%
    • behavioural/psychiatric manifestations include
      • autistic behaviours
      • hand stereotypies - often clasped together, with wringing movements and clapping
      • sleep disturbance
      • bruxism
      • breath holding

Notes:

* there have been rare reports of Rett syndrome in males

Reference

  1. Asuncion R et al. Rett Syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Mar.
  2. Fu C et al. Consensus guidelines on managing Rett syndrome across the lifespan. BMJ Paediatr Open. 2020 Sep 13;4(1):e000717.

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