Atypical Rett syndrome

Title

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Other Names:

Rett like syndrome; Rett syndrome variant

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

Atypical Rett syndrome is a neurodevelopmental disorder that is diagnosed when a child has some of the symptoms of Rett syndrome but does not meet all the diagnostic criteria. Like the classic form of Rett syndrome, atypical Rett syndrome mostly affects girls. Children with atypical Rett syndrome can have symptoms that are either milder or more severe than those seen in Rett syndrome. Several subtypes of atypical Rett syndrome have been defined:^[1]

The early-onset seizure type is characterized by seizures in the first months of life with later development of Rett features (including developmental problems, loss of language skills, and repeated hand wringing or hand washing movements). It is frequently caused by mutations in the X-linked CDKL5 gene (Xp22).
The congenital variant is the most severe form of atypical Rett syndrome, with onset of classic Rett features during the first three months of life. This variant is generally caused by mutations in the FOXG1 gene (14q11-q13).
The forme fruste is a milder variant with onset in early childhood and an incomplete and prolonged course.
The late childhood regression form is characterized by a normal head circumference and by a more gradual and later onset (late childhood) regression of language and motor skills.
The preserved speech variant is marked by recovery of some verbal and manual skills and is caused in at least some cases by mutations in the MECP2 (Xq28) gene, which is also responsible for the majority of cases of classic Rett syndrome.

Diagnosis relies on clinical evaluation using the diagnostic criteria for atypical Rett syndrome which was defined by Hagberg in 1994. Molecular genetic testing may confirm the diagnosis.^[1]

Last updated: 2/12/2013

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Agitation		0000713
Developmental regression	Loss of developmental milestones Mental deterioration in childhood [ more ]	0002376
EEG abnormality		0002353
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Functional motor deficit		0004302
Loss of speech		0002371
Poor eye contact		0000817
Sleep disturbance	Difficulty sleeping Trouble sleeping [ more ]	0002360
Stereotypical hand wringing		0012171
30%-79% of people have these symptoms
Dystonia		0001332
Episodic tachypnea		0002876
Functional abnormality of the gastrointestinal tract		0012719
Gait ataxia	Inability to coordinate movements when walking	0002066
Hand apraxia		0032588
Limb myoclonus		0045084
Loss of ability to walk		0006957
Mutism	Inability to speak Muteness [ more ]	0002300
Postnatal microcephaly		0005484
Restrictive behavior		0000723
Severe global developmental delay		0011344
Short foot	Short feet Small feet [ more ]	0001773
Small hand	Disproportionately small hands	0200055
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257
Sudden episodic apnea		0002882
Tongue thrusting		0100703
5%-29% of people have these symptoms
Delayed gross motor development	Delayed motor skills	0002194
Developmental stagnation		0007281
Generalized myoclonic seizure		0002123
Growth delay	Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ]	0001510
Impaired pain sensation	Decreased pain sensation	0007328
Inappropriate crying		0030215
Inappropriate laughter		0000748
Infantile spasms		0012469
Intellectual disability, mild	Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ]	0001256
Kyphosis	Hunched back Round back [ more ]	0002808
Neonatal hypotonia	Low muscle tone, in neonatal onset	0001319
Panic attack		0025269
Pill-rolling tremor		0025387
Scoliosis		0002650

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Last updated: 1/1/2021

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Treatment Treatment

Treatment is symptomatic and supportive. Medication may be needed for breathing irregularities, sleep disturbances (melatonin), agitation (risperidone), rigidity and motor difficulties (levodopa and carbidopa), and to control seizures (antiepileptic drugs). Anti-reflux agents may also be required.^[1]

Last updated: 4/5/2011

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

The International Rett Syndrome Foundation provides a list of specialty clinics for Rett syndrome.

Related Diseases 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 diagnoses include Angelman syndrome, autism, cerebral palsy, inborn errors of metabolism and severe intellectual deficit (see these terms). Visit the Orphanet disease page for more information.

Research Research

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.

Clinical Research Resources

The Rett Syndrome, MECP2 Duplications, & Rett-related Disorders Consortium is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research into three disorders of the nervous system: Rett syndrome (RTT), MECP2 duplication disorder and RTT-related disorders. Major goals of the Consortium are to identify and understand the core clinical features of each disorder; identify factors that can modify the severity of the disorders; and understand the relationship between patients’ symptoms and their brain imaging and electroencephalography alterations. Click on the name of the study for more information.

Organizations 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

International Foundation for CDKL5 Research (IFCR)
P.O. Box 926
Wadsworth, OH 44282
Telephone: +1-330-294-5005
E-mail: info@cdkl5.com
Website: https://www.cdkl5.com/
International FoxG1 Foundation
6505 Hillock Lane
Pearland, TX 77584
E-mail: info@foxg1.com
Website: http://www.foxg1.com/
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/
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

Do you know of an organization? We want to hear from you.

Living With Living With

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.

Education Resources

The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

Learn More 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

Genetics Home Reference (GHR) contains information on Atypical 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

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.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

GARD Answers GARD Answers

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