Atypical Rett syndrome

Title

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

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 movement	Very frequent (present in 80%-99% of cases)
Abnormality of the antitragus	Very frequent (present in 80%-99% of cases)
Abnormality of the fingernails	Very frequent (present in 80%-99% of cases)
Abnormality of the metacarpal bones	Very frequent (present in 80%-99% of cases)
Aplasia/Hypoplasia of the cerebellum	Very frequent (present in 80%-99% of cases)
Camptodactyly of finger	Very frequent (present in 80%-99% of cases)
Cerebral cortical atrophy	Very frequent (present in 80%-99% of cases)
Clinodactyly of the 5th finger	Very frequent (present in 80%-99% of cases)
Developmental regression	Very frequent (present in 80%-99% of cases)
EEG abnormality	Very frequent (present in 80%-99% of cases)
Fine hair	Very frequent (present in 80%-99% of cases)
Gastroesophageal reflux	Very frequent (present in 80%-99% of cases)
Hearing impairment	Very frequent (present in 80%-99% of cases)
Intellectual disability	Very frequent (present in 80%-99% of cases)
Long philtrum	Very frequent (present in 80%-99% of cases)
Microcephaly	Very frequent (present in 80%-99% of cases)
Nephrolithiasis	Very frequent (present in 80%-99% of cases)
Seizures	Very frequent (present in 80%-99% of cases)
Spasticity	Very frequent (present in 80%-99% of cases)
Thick vermilion border	Very frequent (present in 80%-99% of cases)
Underdeveloped nasal alae	Very frequent (present in 80%-99% of cases)
Ventriculomegaly	Very frequent (present in 80%-99% of cases)
Wide mouth	Very frequent (present in 80%-99% of cases)
Wide nose	Very frequent (present in 80%-99% of cases)

Last updated: 6/1/2017

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

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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

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.

Organizations Supporting this Disease

International Foundation for CDKL5 Research
P.O. Box 926
Wadsworth, OH 44282
Telephone: 330-612-2751
E-mail: http://www.cdkl5.com/Contact/Default.aspx
Website: http://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: 203-445-0041
Fax: 203-445-9234
E-mail: info@rsrt.org
Website: http://reverserett.org/
Rettsyndrome.org
4600 Devitt Drive
Cincinnati, OH 45246
Toll-free: 800-818-7388
Telephone: 513-874-3020
Fax: 513-874-2520
E-mail: admin@rettsyndrome.org
Website: http://www.rettsyndrome.org/
Formerly known as the International Rett Syndrome Foundation

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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.

Healthcare Resources

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

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.

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