Diseases

Down Syndrome

A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)

MeSH Record

Classification

Broader headings

Related Concepts

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MeSH Record

Synonyms

13 entry terms
  • 47,XX,+21
  • 47,XY,+21
  • Down's Syndrome
  • Mongolism
  • Trisomy 21
  • Trisomy G
  • Downs Syndrome
  • Syndrome, Down
  • Syndrome, Down's
  • Down Syndrome, Partial Trisomy 21
  • Partial Trisomy 21 Down Syndrome
  • Trisomy 21, Meiotic Nondisjunction
  • Trisomy 21, Mitotic Nondisjunction

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

93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74

MeSH Hierarchy

Tree Numbers

  1. C10w.597.606.360w.220w
  2. C16w.131w.077w.327w
  3. C16w.131w.260w.260w
  4. C16w.320w.180w.260w

AMA Style

References

  1. National Library of Medicine. Down Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D004314. http://id.nlm.nih.gov/mesh/2026/D004314
  2. Down Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Down_syndrome
  3. Down Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q47715