Rett Disorder (Rett Syndrome)

OVERVIEW

Rett disorder is a genetic condition characterized by intellectual disability and lack of normal child development.

WHAT CAUSES IT?

This is a X-linked dominant condition

WHAT MAKES US SUSPECT IT?

Risk factors

Young female children

Initial presentation: the signs/symptoms of this condition become apparent at around ages 1-4.

  • Loss of development
  • Developmental regression
  • Intellectual disability
  • Ataxia

History Of Present Illness:

Initial period of normal development: patients will develop normally for the first 5-6 months of life. After this pain they will experience:

  • Decreased rate of head growth (~5-30 month range)

Hand wringing is a stereotypical characteristic of this condition.

Hand wringing (pictured above) is a characteristic feature of Rett disorder (source)
Hand wringing (pictured above) is a characteristic feature of Rett disorder (source)
OTHER FACTS?

Affected males will die in utero or shortly after birth

 

Page Updated: 09.03.2016