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. ...more »
Symptoms of Down Syndrome
See full list of 24
symptoms of Down Syndrome
Home Diagnostic Testing
Home medical testing related to Down Syndrome:
- Child Behavior: Home Testing
- Child General Health: Home Testing
Wrongly Diagnosed with Down Syndrome?
Down Syndrome: Related Patient Stories
Down Syndrome: Deaths
Read more about Deaths and Down Syndrome.
Types of Down Syndrome
Read more about Types of Down Syndrome
Diagnostic Tests for Down Syndrome
See full list of 10
diagnostic tests for Down Syndrome
Down Syndrome: Complications
Review possible medical complications related to Down Syndrome:
Causes of Down Syndrome
Read more about causes of Down Syndrome.
More information about causes of Down Syndrome:
Disease Topics Related To Down Syndrome
Research the causes of these diseases that are similar to, or related to, Down Syndrome:
Down Syndrome: Undiagnosed Conditions
Commonly undiagnosed diseases in related medical categories:
- Vision & Eye: serious diseases often undiagnosed:
- Child Health Disorders -- serious medical disorders that may be undiagnosed:
- more undiagnosed conditions...»
Misdiagnosis and Down Syndrome
Mild worm infections undiagnosed in children: Human worm infestations, esp. threadworm, can be overlooked in some cases,
because it may cause only mild or even absent symptoms.
Although the most common symptoms are anal itch (or ...read more »
Mesenteric adenitis misdiagnosed as appendicitis in children: Because appendicitis is one of the
more feared conditions for a child with abdominal pain, it can be over-diagnosed
(it can, of course, also fail to...read more »
Blood pressure cuffs misdiagnose hypertension in children: One known misdiagnosis issue
with hyperension, arises in relation to the simple equipment used to test blood pressure.
The "cuff" around the...read more »
Children with migraine often misdiagnosed: A migraine often fails to be
correctly diagnosed in pediatric patients.
These patients are not the typical migraine sufferers, but...read more »
Read more about Misdiagnosis and Down Syndrome
Down Syndrome: Research Doctors & Specialists
Research related physicians and medical specialists:
- Muscle and Orthopedic Specialists:
- Baby & Newborn Health Specialists:
- Ear, Nose & Throat Specialists:
- Child Health Specialists (Pediatrics):
- more specialists...»
Other doctor, physician and specialist research services:
Hospitals & Clinics: Down Syndrome
Research quality ratings and patient safety measures
for medical facilities in specialties related to Down Syndrome:
Hospital & Clinic quality ratings »
Choosing the Best Hospital:
More general information, not necessarily in relation to Down Syndrome,
on hospital performance and surgical care quality:
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
Down Syndrome: Animations
More Down Syndrome animations & videos
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
Research 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
Down Syndrome Message Boards
Related forums and medical stories:
User Interactive Forums
Read about other experiences, ask a question about Down Syndrome, or answer someone else's question, on our message boards:
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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