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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. ...more »

Symptoms of Down Syndrome

Home Diagnostic Testing

Home medical testing related to Down Syndrome:

Wrongly Diagnosed with Down Syndrome?

Down Syndrome: Related Patient Stories

Down Syndrome: Deaths

Read more about Deaths and Down Syndrome.

Types of Down Syndrome

Diagnostic Tests for Down Syndrome

Test for Down Syndrome in your own home

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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:

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 »

Down Syndrome: Research Doctors & Specialists

Research related physicians and medical 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:

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

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.

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:

Statistics for Down Syndrome

Down Syndrome: Broader Related Topics

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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