Rett syndrome

Signs and characteristics

The clinical presentation is variable but often includes a combination of the following:

• Early normal growth followed by loss of acquired skills and slowed head growth
• Repetitive hand stereotypies such as wringing, clapping, or tapping
• Gait abnormalities or inability to walk
• Breathing irregularities (hyperventilation, breath-holding), seizures, and sleep problems
• Small hands and feet, scoliosis, and growth delay

Causes and diagnosis

Most cases are caused by mutations in the MECP2 gene on the X chromosome; the change usually occurs de novo rather than being inherited. Diagnosis combines clinical criteria with genetic testing to confirm an MECP2 mutation. Distinguishing Rett syndrome from autism spectrum disorders and other developmental conditions relies on the typical pattern of regression and the presence of hand stereotypies. For clinical guidelines and genetic resources see genetics information and diagnostic criteria.

Management and prognosis

There is no cure. Care is multidisciplinary and aims to improve quality of life through physiotherapy, occupational and speech therapy, nutritional and respiratory support, seizure control, and orthopedic management for scoliosis. Assistive communication devices and tailored educational programs can enhance interaction. Families often access support through specialist centers and advocacy groups; see care resources and support organizations for practical guidance.

History and research

Rett syndrome was first described in the 1960s and its genetic cause (MECP2) was identified in the late 1990s. Research continues into targeted therapies, including gene therapy and molecular approaches, but these remain experimental. Clinical trials and registries help track outcomes and advance understanding; see research updates.

Notable facts and distinctions

Rett syndrome is an X‑linked dominant disorder with a distinctive clinical course that separates it from many other developmental conditions. Males with MECP2 mutations are rare and usually present with more severe neonatal encephalopathy. Early recognition and coordinated care improve long-term support and planning; for family planning and genetic counseling information consult counseling resources.