Rett syndrome

Medical Specialties: Family practice, Internal medicine, Pediatrics

Clinical Definition

Rett syndrome is a pediatric neurodevelopmental disorder predominantly affecting females.  The nervous system disorder leads to developmental reversals, especially in expressive language and use of the hands. Breathing problems, floppy limbs and seizures may occur

In Our Own Words

Rett syndrome is a genetic disorder affecting the nervous system. The gene thought to underlie the condition is on the X chromosome. Since girls have another X-chromosome, gene function is typically normal enough to survive. When boys, who don't have a second X chromosome, are affected, they usually die in the womb or as newborns.


A child may seem to develop normally up until about 12 to 18 months, when parents notice reversals in development such as new problems with language and hand use. Breathing problems, floppy limbs and seizures are often reported.


Physical therapy, anti-seizure medicines and family support and help are often advised. The course of the disease varies much from child to child.  

Relevant Conditions
  • Autism
  • Epilepsy
  • Cerebral palsy
Common Types
  • Atypical (early onset or late, up to age 3 years, or in a boy or in a patient with mild problems)
  • Classical
  • Provisional (some symptoms occur between ages 1-3 years)
Side Effects
  • Breathing problems
  • Floppy limbs
  • Seizures
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