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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Down Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Chromosome Disorders > Down Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Chromosome Disorders > Down Syndrome
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Down Syndrome
Nervous System Diseases > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Down Syndrome
Behavior and Behavior Mechanisms > Neurobehavioral Manifestations > Intellectual Disability > Down Syndrome
Mental Disorders > Neurodevelopmental Disorders > Intellectual Disability > Down Syndrome

Preferred term

Down Syndrome  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • 47,XX,+21
  • 47,XY,+21
  • Down's Syndrome
  • Downs Syndrome
  • Mongolism
  • Syndrome, Down's
  • Trisomy 21
  • Trisomy G

Scope note

  • 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, Simian 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)

History note

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

In other languages

  • Downin oireyhtymä

    Finnish

  • 21-trisomia
  • Down
  • Downin syndrooma
  • mongoloidi
  • mongoloidismi
  • mongoloismi
  • määrittämätön Downin oireyhtymä
  • syndroma Down
  • syndroma Down non specificatum
  • Downs syndrom

    Swedish

URI

http://www.yso.fi/onto/mesh/D004314

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