Rare Pulmonology News

Disease Profile

Atypical 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.

Unknown

Age of onset

Neonatal

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

rnn-autosomaldominant.svg

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

no.svg

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.

rnn-xlinkeddominant.svg

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

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

Rett like syndrome; Rett syndrome variant

Categories

Congenital and Genetic Diseases; Nervous System Diseases

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]

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
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

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]

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

    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

      • 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.

        References

        1. Bienvenu T. Atypical Rett syndrome. Orphanet. 2009; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3095. Accessed 4/5/2011.

        Rare Pulmonology News