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?
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
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.
Affected males will die in utero or shortly after birth
Page Updated: 09.03.2016