Condition
Down Syndrome
Neurology
Overview
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)
This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.
Quick facts about Down Syndrome
- Topic type
- Condition
- Category
- Neurology
- MeSH classification
- C10.597.606.360.220|C16.131.077.327|C16.131.260.260|C16.320.180.260
Preparing for an appointment about Down Syndrome
If you are speaking with a healthcare professional about Down Syndrome, it can help to prepare a few details in advance.
- Write down your symptoms and when they started.
- Bring details of any medicines, supplements or previous treatments.
- Ask what tests or assessments may be needed.
- Ask what treatment or management options may be suitable.
- Ask when you should seek urgent medical help or follow-up care.
Finding care related to Down Syndrome
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Source: Medical Subject Headings (MeSH), produced by the U.S. National Library of Medicine. EuroCareFinder is not endorsed by the National Library of Medicine. MeSH version: 2026.