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)

Also Known As:

Down's Syndrome; Trisomy 21; Downs Syndrome; Syndrome, Down; Trisomy 21, Meiotic Nondisjunction; Mongolism; 47,XX,+21; 47,XY,+21; Down Syndrome, Partial Trisomy 21; Partial Trisomy 21 Down Syndrome; Trisomy 21, Mitotic Nondisjunction; Trisomy G; Syndrome, Down's

Nervous System Diseases: 14737
- Neurologic Manifestations: 7223
  - Neurobehavioral Manifestations: 1632
    - Intellectual Disability: 8222
      - Down Syndrome: 8054
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Multiple Abnormalities: 213
    - Down Syndrome: 8054
  - Chromosome Disorders: 140
    - Down Syndrome: 8054
- Inborn Genetic Diseases: 12342
  - Chromosome Disorders: 140
    - Down Syndrome: 8054

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