Disease Atlas / Disease detail

Rett syndrome

An atlas of MECP2-related regression, hand, language and gait changes, and multidisciplinary supportive care.

Rett syndrome · MECP2-related Rett syndrome

MONDO:0010726Public QA completeSource-bound · 4

Disease at a glance

Start with the essentials, then explore the patient and research views.

Public revision · a77e59f0a2a7

Disease class: Rett syndrome is a neurodevelopmental disorder.
Core mechanism: Most cases are associated with pathogenic MECP2 variants.
Genes or cause: Classic disease occurs mainly in females.
Typical features: Regression after early development is a key feature.
Variability: Loss of hand skills and language with stereotypies occurs.
Diagnosis: Gait, breathing, and growth changes can coexist.
Management: Clinical criteria and MECP2 testing establish diagnosis.
Treatment and research: An MECP2 variant alone does not define classic Rett.
Reading evidence: Seizures, scoliosis, and nutrition receive individualized care.
Key caution: Communication, rehabilitation, and devices support participation.

A structured guide for understanding the disease and preparing for clinical conversations.

Rett syndrome is a neurodevelopmental disorder.

Regression after early development is a key feature.

Most cases are associated with pathogenic MECP2 variants.

Classic disease occurs mainly in females.

Loss of hand skills and language with stereotypies occurs.

Gait, breathing, and growth changes can coexist.

Clinical criteria and MECP2 testing establish diagnosis.

An MECP2 variant alone does not define classic Rett.

Care goals are adapted across the life course.

Regression, seizures, breathing, and nutritional safety require review.

This material is for disease education and is not a personal diagnosis or treatment instruction.

A trial registry status does not establish efficacy or regulatory approval.