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

• Physical abnormalities
  • Flattened face
  • Snub nose
  • Flattened nasal bridge
  • Upward slanting eyes
• more symptoms...»

See full list of 24 symptoms of Down Syndrome

Home Diagnostic Testing

Home medical testing related to Down Syndrome:

• Cold & Flu: Home Testing:
  • Home Fever Tests
  • Home Ear Infection Test Kits
  • Home Flu Tests
  • Home Strep A Tests
• more tests...»

Down Syndrome: Complications

Review possible medical complications related to Down Syndrome:

• Difficulty breastfeeding - from tongue and mouth abnormalities.
• Mental retardation
• Enlarged tongue
• Round facial features
• Flattened facial features (see Facial feature symptoms)
• Hypothyroidism
• more complications...»

Medical Textbooks Online about Down Syndrome

Book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.

Diagnostic Tests for Down Syndrome

• Prenatal testing
  • Blood tests - testing mother's blood for serum alpha feto-protein (MSAFP), chorionic gonadotropin (hCG), and unconjugated estriol (uE3).
  • Amniocentesis - not before the 14th-18th week; small risk of miscarriage.
  • Chorionic villus sampling (CVS) - at 9-11 weeks; 1-2% risk of miscarriage.
  • Ultrasound for neck width
• more tests...»

See full list of 10 diagnostic tests for Down Syndrome

Wrongly Diagnosed with Down Syndrome?

• Misdiagnosis of Down Syndrome
• Failure to diagnose Down Syndrome
• Hidden causes of Down Syndrome (possibly wrongly diagnosed)
• Undiagnosed: Down Syndrome

Down Syndrome: Research Doctors & Specialists

Research related physicians and medical specialists:

• Baby & Newborn Health Specialists:
  • Neonatal-Perinatal Medicine
  • Obstetrics & Gynecology
• Child Health Specialists (Pediatrics):
  • Pediatrics (Child Health Specialist)
  • Adolescent Medicine (Teen Health)
  • Pediatric / Adolescent Psychiatry (Child/Teen Mental Health)
  • Pediatric Allergy and Immunology (Child Allergies / Immune Diseases)
  • Pediatric Cardiology (Child Heart Specialists)
  • Pediatric Critical Care Medicine
  • Pediatric Dentistry (Child Dental Health)
  • Pediatric Dermatology (Child Skin Health)
  • Pediatric Developmental Behavioral Health (Child Behavior)
  • Pediatric Emergency Medicine
  • Pediatric Endocrinology (Child Hormones)
  • Pediatric Gastroenterology (Child Digestive Specialists)
  • Pediatric Hematology / Oncology
  • Pediatric Infectious Disease Medicine
  • Pediatric Medical Toxicology (Child Poisoning)
  • Pediatric Nephrology (Child Kidney Specialists)
• more specialists...»

Other doctor, physician and specialist research services:

• Rate Your Doctor Online
• Research Your Doctor Online
• Review Patient Surveys About Your Doctor
• Research local specialists including ratings, affiliations, and sanctions.

Hospitals & Clinics: Down Syndrome

Research quality ratings and patient safety measures for medical facilities in specialties related to Down Syndrome:

• Child Health (Pediatrics) -- Hospital Quality Ratings
• more hospital ratings...»

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:

• 50 Best Hospitals Report
• Outstanding Patient Experinece Award Winning Hospitals
• Women's Health Best Hospitals
• Patient Safety
• Hospital Quality and Clinical Excellence Study (2009)

Causes of Down Syndrome

Read more about causes of Down Syndrome.

More information about causes of Down Syndrome:

• Down Syndrome as a symptom

News Archives for Down Syndrome

Medical news articles related to Down Syndrome include:

• Research Reveals How Down Syndrome Shields Against Cancer
• Scientists Explore New Test for Down Syndrome
• Research Unveils Earliest Cell Changes in Down Syndrome
• In Some Insomnia Patients, Brain Just Won't Shut Down
• With the Economy Down, Vasectomy Rates Are Up
• more health news...»

Source: HealthDay News

Evidence Based Medicine Research for Down Syndrome

Medical research articles related to Down Syndrome include:

• Comparison of different strategies in prenatal screening for Down's syndrome: cost effectiveness analysis of computer simulation.
• Galantamine for dementia in people with Down syndrome
• Donepezil for dementia in people with Down syndrome
• Memantine for dementia in people with Down syndrome
• Rivastigmine for dementia in people with Down syndrome
• more research...»

Click here to find more evidence-based articles on the TRIP Database

Videos for Down Syndrome

Patient Surveys for Down Syndrome

• Patient Profile Survey
  Take Survey  View Results
• Survey about the symptoms of your Down Syndrome
  Take Survey  View Results

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:

• Down Syndrome - Comparison of Screening Methods in the 1st and 2nd Trimesters - This study is no longer recruiting patients (Current: 23 Nov 2006)
• Vitamin E in Aging Persons With Down Syndrome - This study is currently recruiting patients (Current: 23 Nov 2006) - Vitamin E,multivitamin
• Efficacy Study of Folinic Acid to Improve Mental Development of Children With Down Syndrome - This study has been completed (Current: 23 Nov 2006) - folinic acid
• Down Syndrome and Continuous Positive Pressure Therapy - This study is currently recruiting patients (Current: 23 Nov 2006)
• Brain Study of Patients With Frontal Lobe Dementia and Parkinsonian Disorders - This study is currently recruiting patients (Current: 23 Nov 2006) - 18 FDG
• more trials...»

See full list of 11 Clinical Trials for Down Syndrome

Statistics for Down Syndrome

• Medical statistics for Down Syndrome
• Prevalence and incidence statistics for Down Syndrome
• Death and Mortality statistics for Down Syndrome
• Society statistics for Down Syndrome

Down Syndrome: Broader Related Topics

• Chromosome conditions
• Autosomal chromosome conditions
• Trisomy conditions
• more types...»

Types of Down Syndrome

Types of Down Syndrome

• Translocation Down Syndrome (type of Translocation Chromosome Disorders)
• Familial Down Syndrome
• Mosaic Down Syndrome
• more types...»

Read more about Types of Down Syndrome

Stories from Users Related to Down Syndrome

• Q-Tip Jammed down ear :(
• down syndrome
• odor 'down there'
• Good Health suddenly down the drain
• Deep split down centre of tongue.
• extremely ITCHY down there, driving me nuts!
• Trisomy 20+
• Burning from waist down
• Trisomy 20+ detected.. Should Plan for baby or not?
• I could really use some opinions! I can't even walk down a hill! PLEASE!!!
• strange lump "down there"
• Downs and dual diagnosis
• rare chromosome 3 disorder
• Down Syndrome
• Downs & Hallucinations
• I sleep on my front (on my stomach, face down)
• Frozen down the middle of the head

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User Interactive Forums

Read about other experiences, ask a question about Down Syndrome, or answer someone else's question, on our message boards:

• I can not get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for this?
• See all the forums.

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