Rett Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A progressive neurologic disorder caused by mutations in the MECP2 gene on chromosome X. It almost exclusively affects girls. It is characterized by language and learning difficulties, poor communication skills, and repetitive hand motions. Other signs and symptoms include microcephaly, scoliosis, breathing abnormalities, and sleep disturbances.

**Synonyms:** - Rett's syndrome