Rare Psychiatry News
Disease Profile
Rett syndrome
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.
10/100,000
Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Autism-dementia-ataxia-loss of purposeful hand use syndrome, Rett disorder, Rett's disorder, Rett's syndrome, RTT
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
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.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
Differential diagnosis includes autism and Angelman syndrome; cataract, retinopathy, or optic atrophy; history of perinatal or postnatal brain damage; confirmed inborn error of metabolism or neurodegenerative disorder; acquired neurological disorder due to severe head trauma or infection. Storage disorder is usually excluded by the presence of organomegaly.
Visit the Orphanet disease page for more information.
|
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
-
Rett Syndrome Research Trust
67 Under Cliff Road
Trumbull, CT 06611
Telephone: +1-203-445-0041
E-mail: info@rsrt.org
Website: https://reverserett.org/ -
Rett UK
Victory House
Chobham Street
Luton
LU1 3BS
United Kingdom
Telephone: 01582 798 911 (Helpline)
E-mail: support@rettuk.org
Website: https://www.rettuk.org/ -
Rettsyndrome.org
4600 Devitt Drive
Cincinnati, OH 45246
Toll-free: 1-800-818-7388
Telephone: +1-513-874-3020
Fax: +1-513-874-2520
E-mail: admin@rettsyndrome.org
Website: https://www.rettsyndrome.org/
Formerly known as the International Rett Syndrome Foundation
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
- The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) provides information related to the health of children, adults, and families. Click on the link to view information on this topic.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Rett syndrome. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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
- John Christodoulou and Gladys Ho. MECP2-Related Disorders. GeneReviews. https://www.ncbi.nlm.nih.gov/books/NBK1497/. Accessed 8/4/2014.
- Rett syndrome. Genetics Home Reference. December, 2013; https://ghr.nlm.nih.gov/condition/rett-syndrome. Accessed 8/6/2014.
- Rett syndrome. Genetics Home Reference (GHR). December 2013; https://ghr.nlm.nih.gov/condition/rett-syndrome.
- What is Rett Syndrome?. Rettsyndrome.org. https://www.rettsyndrome.org/about-rett-syndrome/what-is-syndrome. Accessed 4/25/2016.
- 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.
- Bernstein BE. Rett Syndrome. Medscape Reference. July 15, 2015; https://emedicine.medscape.com/article/916377-overview.
- Neul JL. Rett Syndrome. National Organization for Rare Disorders (NORD). 2015; https://rarediseases.org/rare-diseases/rett-syndrome/.
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