Down Syndrome
Down Syndrome: Introduction
A genetic chromosomal syndrome affecting physical features
and usually causing mental retardation.
It is caused by having an extra third copy of chromosome 21,
usually by a random error in the mother's egg,
though a small percentage are familial
such as Translocation Down Syndrome (~4-5%) and occur from a chromosomal defect in a parent.
Mosaic Down Syndrome occurs around 1% and has milder effects as
the patient has a mixture of both normal and trisomy cells.
Down Syndrome can be diagnosed prenatally in the womb during pregnancy
using several different tests including ultrasound, amniocentesis and CVS.
Diagnosis after birth can usually be made from physical and facial features.
Symptoms of Down Syndrome
See full list of 24
symptoms of Down Syndrome
Home Diagnostic Testing
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Down Syndrome: Complications
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Disease Topics Related To Down Syndrome
Research the causes of these diseases that are similar to, or related to, Down Syndrome:
Medical Textbooks Online about Down Syndrome
Book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
Diagnostic Tests for Down Syndrome
See full list of 10
diagnostic tests for Down Syndrome
Wrongly Diagnosed with Down Syndrome?
Down Syndrome: Research Doctors & Specialists
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Hospitals & Clinics: Down Syndrome
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for medical facilities in specialties related to Down Syndrome:
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on hospital performance and surgical care quality:
Causes of Down Syndrome
Read more about causes of Down Syndrome.
More information about causes of Down Syndrome:
News Archives for Down Syndrome
Medical news articles related to Down Syndrome include:
Source: HealthDay News
Evidence Based Medicine Research for Down Syndrome
Medical research articles related to Down Syndrome include:
Click here to find more evidence-based articles on the TRIP Database
Videos for Down Syndrome
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See full list of 4 related videos
Patient Surveys for Down Syndrome
Prognosis for Down Syndrome
Prognosis for Down Syndrome:
Moderate. Survival rates are high but with mental retardation and a reduced life span due to various conditions.
More about prognosis of Down Syndrome
Reseach about Down Syndrome
Visit our research pages for current research about Down Syndrome treatments.
Clinical Trials for Down Syndrome
The US based website ClinicalTrials.gov lists information on both federally
and privately supported clinical trials using human volunteers.
Some of the clinical trials listed on ClinicalTrials.gov for Down Syndrome include:
See full list of 11
Clinical Trials for Down Syndrome
Statistics for Down Syndrome
Down Syndrome: Broader Related Topics
Types of Down Syndrome
Types of Down Syndrome
Read more about Types of Down Syndrome
Stories from Users Related to Down Syndrome
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User Interactive Forums
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Definitions of 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)
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)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Down Syndrome as a "rare disease".
Source - Orphanet
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