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Dictionary » Down syndrome

Down syndrome

Introduction: Down syndrome

Description of Down syndrome

Down syndrome (medical condition): A genetic chromosomal syndrome affecting physical features and usually causing mental retardation. It is caused by having an extra third copy ...more

Down syndrome: See also:

Down Syndrome:
  »Introduction: Down Syndrome
  »Symptoms of Down Syndrome

Down syndrome: A disorder caused by the presence of an extra chromosome 21 and characterized by mental retardation and distinguishing physical features.
Source: National Institute of Health

Down syndrome: a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation.
Source: WordNet 2.1

Down syndrome: A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome. --2004
Source: Diseases Database

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, Simian crease, and moderate to severe MENTAL RETARDATION. 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).
Source: MeSH 2007

Down syndrome: Related Topics

These medical condition or symptom topics may be relevant to medical information for Down syndrome:

Down syndrome: Rare Disease


Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Down syndrome as a "rare disease".

Source - Orphanet

Down syndrome as a Disease

Down syndrome (medical condition): See Down Syndrome (disease information).
  »Introduction: Down Syndrome
  »Symptoms of Down Syndrome

Down syndrome: Related Diseases

Down syndrome: Down syndrome is listed as a type of (or associated with) the following medical conditions in our database:

More information on medical condition: Down Syndrome:

Down syndrome: Related Disease Topics

These medical disease topics may be related to Down syndrome:

Terms associated with Down syndrome:

Terms Similar to Down syndrome:

Source: Diseases Database

Source - WordNet 2.1

Source - MeSH 2007

Broader terms for Down syndrome

Source - MeSH 2007

Source - WordNet 2.1

The following terms can be used for Down syndrome

Source: CRISP

Hierarchical classifications of Down syndrome

The following list attempts to classify Down syndrome into categories where each line is subset of the next.

WordNet 2.1

  • trisomy
  • chromosomal aberration,chromosomal anomaly,chromosonal disorder,chrosomal abnormality
  • aberrance,aberrancy,aberration,deviance
  • abnormal condition,abnormalcy,abnormality
  • condition,status
  • state

Source: WordNet 2.1

MeSH 2007 Hierarchy:

MeSH 2007 Hierarchy

MeSH 2007 Hierarchy

MeSH 2007 Hierarchy

External links related to: Down syndrome

Source: Diseases Database

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