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Disease Profile

Rett syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Infancy

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ICD-10

F84.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Autism, dementia, ataxia, and loss of purposeful hand use

Categories

Congenital and Genetic Diseases; Nervous System Diseases; RDCRN

Summary

Rett syndrome is a progressive, neuro-developmental condition that primarily affects girls. Affected girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental "plateau," and then rapid regression in language and motor skills. Additional signs and symptoms may include repetitive, stereotypic hand movements; fits of screaming and inconsolable crying; autistic features; panic-like attacks; teeth grinding (bruxism); episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. Some people have an atypical form of Rett syndrome that may be more mild or more severe. Classic Rett syndrome is most commonly caused by mutations in the MECP2 gene and is usually inherited in an X-linked dominant manner. The vast majority of cases are not inherited from a parent, but are due to a new mutation in the affected person. Treatment mainly focuses on the specific signs and symptoms of the condition.[1]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal pattern of respiration
Abnormal respiratory patterns
Unusual breathing patterns

[ more ]

0002793
Absent speech
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal

[ more ]

0001344
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood

[ more ]

0002376
Global developmental delay
0001263
High-pitched cry
0025430
Progressive microcephaly
Progressively abnormally small cranium
Progressively abnormally small skull

[ more ]

0000253
Stereotypical hand wringing
0012171
30%-79% of people have these symptoms
Bradykinesia
Slow movements
Slowness of movements

[ more ]

0002067
Difficulty walking
Difficulty in walking
0002355
Dystonia
0001332
EEG abnormality
0002353
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Limb apraxia
0030217
Seizure
0001250
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
5%-29% of people have these symptoms
Abnormal autonomic nervous system physiology
0012332
Agitation
0000713
Cholecystitis
Gallbladder inflammation
0001082
Hyperammonemia
High blood ammonia levels
0001987
Inability to walk
0002540
Increased CSF lactate
0002490
Increased serum lactate
0002151
Increased serum leptin
0031793
Increased serum pyruvate
0003542
Infantile muscular hypotonia
Decreased muscle tone in infant
0008947
Scoliosis
0002650
Sleep disturbance
Difficulty sleeping
Trouble sleeping

[ more ]

0002360
1%-4% of people have these symptoms
Congenital microcephaly
0011451
Percent of people who have these symptoms is not available through HPO
Abnormal T-wave
0005135
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality

[ more ]

0000164
Apnea
0002104
Autistic behavior
0000729
Bruxism
Teeth grinding
0003763
Cachexia
Wasting syndrome
0004326
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Constipation
0002019
Dementia
Dementia, progressive
Progressive dementia

[ more ]

0000726
Gait apraxia
0010521
Gait ataxia
Inability to coordinate movements when walking
0002066
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn

[ more ]

0002020
Intellectual disability, profound
IQ less than 20
0002187
Intermittent hyperventilation
Intermittent overbreathing
0004879
Kyphosis
Hunched back
Round back

[ more ]

0002808
Motor deterioration
Progressive degeneration of movement
0002333
Postnatal microcephaly
0005484
Prolonged QTc interval
0005184
Short foot
Short feet
Small feet

[ more ]

0001773
Short stature
Decreased body height
Small stature

[ more ]

0004322
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Truncal ataxia
Instability or lack of coordination of central trunk muscles
0002078
X-linked dominant inheritance
0001423

Cause

Rett syndrome is typically caused by changes (mutations) in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) needed for the development of the nervous system and normal brain function. Mutations in the MECP2 gene that cause Rett syndrome can change the MeCP2 protein or result in the production of too little protein, which appears to disrupt the normal function of neurons and other cells in the brain.

Several conditions caused by changes in other genes (such as FOXG1 syndrome) have overlapping signs and/or symptoms of Rett syndrome. These conditions were once thought to be variant forms of Rett syndrome, but are now usually considered to be separate disorders.[2]

Treatment

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.

Management Guidelines

  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Social Networking Websites

      • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

        Learn more

        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.

        Where to Start

          In-Depth Information

          • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Rett syndrome. Click on the link to view a sample search on this topic.

            References

            1. John Christodoulou and Gladys Ho. MECP2-Related Disorders. GeneReviews. https://www.ncbi.nlm.nih.gov/books/NBK1497/. Accessed 8/4/2014.
            2. Rett syndrome. Genetics Home Reference. December, 2013; https://ghr.nlm.nih.gov/condition/rett-syndrome. Accessed 8/6/2014.
            3. Rett syndrome. Genetics Home Reference (GHR). December 2013; https://ghr.nlm.nih.gov/condition/rett-syndrome.
            4. What is Rett Syndrome?. Rettsyndrome.org. https://www.rettsyndrome.org/about-rett-syndrome/what-is-syndrome. Accessed 4/25/2016.
            5. How many people are affected by or at risk of Rett syndrome?. Eunice Kennedy Shriver National Institute of Child Health and Human Development. January 14, 2014; https://www.nichd.nih.gov/health/topics/rett/conditioninfo/Pages/risk.aspx.
            6. Bernstein BE. Rett Syndrome. Medscape Reference. July 15, 2015; https://emedicine.medscape.com/article/916377-overview.
            7. Neul JL. Rett Syndrome. National Organization for Rare Disorders (NORD). 2015; https://rarediseases.org/rare-diseases/rett-syndrome/.

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