Rett Syndrome is a genetic disorder caused by mutations in the MECP2 gene.
Although the disease is inherited in an X-linked dominant pattern, most cases are actually caused by sporadic mutations, as patients do not typically reach reproductive age. The disease only affects girls, as affected males usually die in utero or shortly after birth. Patients develop normally until 6 - 18 months of age, after which regression of developmental milestones is seen (“milestone regression”).
Clinical features include stereotyped hand-wringing, seizures, ataxia, C-shaped scoliosis, and growth failure.
Find this Rett Syndrome mnemonic and more mnemonics for Chromosomal Abnormalities among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.