Diseases

Rett Syndrome

An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)

MeSH Record

Classification

Broader headings

Related Concepts

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MeSH Record

See Also

MeSH Record

Synonyms

13 entry terms
  • Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use
  • Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome
  • Cerebroatrophic Hyperammonemia
  • Rett Disorder
  • Rett's Disorder
  • Rett's Syndrome
  • Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome
  • Cerebroatrophic Hyperammonemias
  • Hyperammonemia, Cerebroatrophic
  • Hyperammonemias, Cerebroatrophic
  • Retts Syndrome
  • Syndrome, Rett
  • Syndrome, Rett's

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

90

MeSH Record

Previous Indexing

  • Mental Retardation (1983-1989)
  • Movement Disorders (1986-1989)

MeSH Hierarchy

Tree Numbers

  1. C10w.597.606.360w.455w.937w
  2. C16w.320w.322.500w.937w
  3. C16w.320w.400.525w.937w

AMA Style

References

  1. National Library of Medicine. Rett Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D015518. http://id.nlm.nih.gov/mesh/2026/D015518
  2. Rett Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Rett_syndrome
  3. Rett Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q917357