Rett syndrome
Pronunciation: RET SIN-drohm
Progressive neurodevelopmental disorder almost exclusively affecting females, characterized by normal early development followed by regression.
Full Definition
Rett syndrome is a progressive neurodevelopmental disorder primarily affecting females, caused by mutations in the MECP2 gene. The condition is characterized by apparently normal early development followed by regression in motor and language skills, typically beginning between 6-18 months of age. Classic features include loss of purposeful hand movements, development of stereotypic hand movements, microcephaly, seizures, and intellectual disability. In pediatric neurology documentation, staging of the condition and associated complications such as scoliosis, breathing irregularities, and cardiac conduction abnormalities should be noted.
Usage
Usage note: Always capitalize as it's an eponymous syndrome; may be abbreviated as RTT in research contexts.
In Context
- "Genetic testing confirmed classic Rett syndrome with a pathogenic MECP2 mutation." — Genetic consultation report
- "The patient's developmental regression and hand stereotypies are consistent with Rett syndrome." — Neurodevelopmental assessment