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The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormality of the voice | 90% |
| Developmental regression | 90% |
| Gait disturbance | 90% |
| Neurological speech impairment | 90% |
| Stereotypic behavior | 90% |
| Abnormality of the eye | 50% |
| Cerebral cortical atrophy | 50% |
| Hypertonia | 50% |
| Incoordination | 50% |
| Kyphosis | 50% |
| Muscle weakness | 50% |
| Respiratory insufficiency | 50% |
| Scoliosis | 50% |
| Seizures | 50% |
| Sleep disturbance | 50% |
| Tremor | 50% |
| Abnormality of the autonomic nervous system | 7.5% |
| Apnea | 7.5% |
| Arrhythmia | 7.5% |
| Autism | 7.5% |
| Hemiplegia/hemiparesis | 7.5% |
| Hepatomegaly | 7.5% |
| Limitation of joint mobility | 7.5% |
| Microcephaly | 7.5% |
| Reduced bone mineral density | 7.5% |
| Self-injurious behavior | 7.5% |
| Skeletal muscle atrophy | 7.5% |
| Abnormality of the teeth | - |
| Autistic behavior | - |
| Bruxism | - |
| Cachexia | - |
| Constipation | - |
| Dystonia | - |
| EEG abnormality | - |
| EKG: T-wave abnormalities | - |
| Gait apraxia | - |
| Gait ataxia | - |
| Gastroesophageal reflux | - |
| Intellectual disability, profound | - |
| Intermittent hyperventilation | - |
| Motor deterioration | - |
| Postnatal microcephaly | - |
| Prolonged QTc interval | - |
| Short foot | - |
| Short stature | - |
| Spasticity | - |
| Truncal ataxia | - |
| X-linked dominant inheritance | - |
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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How many Americans are diagnosed with Rett syndrome? See answer
I am a nurse, and I have a patient that presents with some of the classic signs of Rett syndrome. I want to locate a specialist in Rett syndrome genetics. Could your agency send me a list of practicing physicians and clinics with expertise in this area? See answer
Is it normal for girls with Rett syndrome to scream and cry? Can girls with Rett syndrome be potty trained? Also, is biting other children normal for girls with Rett syndrome? See answer
My friend's 3-year-old daughter was just diagnosed with Rett Syndrome. A boy sibling was born last week, and he does not have Rett syndrome. Where can we find more information? How do you become part of a clinical trial? See answer
