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Genetic and Metabolic :
Down syndrome / Birth Defects - Genetic

Down syndrome is a genetic condition that arises due to an extra copy of all or part of chromosome 21. Though Down syndrome cannot be cured and comes with a host of medical issues, people with the syndrome learn several skills during their lifetime. With proper medication, diet, training and care, many of them are capable of becoming independent and leading a normal life. With early health intervention, some individuals with Down syndrome are now capable of going for jobs and fending for themselves.

Join our online support group for Down syndrome – meet other parents facing the same challenges with their children, and carers, teachers, therapists, and doctors who can help.


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New Genetic Disorder Identified In 19-month-old Baby Girl in Michigan
A genetic disorder which was previously found in animals has now affected a 19-month-old Girl in Michigan.

Researchers from the Michigan S.....
Genes Associated With Alzheimer's and Down Syndrome Identified
Genes associated with the early onset of Alzheimer's disease in people with Down syndrome have been identified by a research team at The Francis Crick.....
World Down Syndrome Day
  • World Down Syndrome Day is marked on 21 March each year to celebrate childre.....
New Drug may Help Infants With Genetic Disorder Gain Motor Function
  • Nusinersen, a new drug may help infants with spinal muscular atrophy (SMA) regain vit.....
Disappearing Rates of Down Syndrome In Iceland
  • Down syndrome is rapidly disappearing in Iceland due to termination of pregna.....

Truncus Arteriosus - Types, Risk Factors, Clinical Features, Management & Prevention
Truncus arteriosus is a birth defect in which there is only one main artery in the heart that conveys blood both to the lungs and to the rest of the body... Read More
Transposition of Great Vessels - Causes, Symptoms, Diagnosis, Treatment
It is a defect that occurs at the time of birth where the vessels of the heart arise from inappropriate ventricles hindering the oxygen supply to the blood... Read More
Tetralogy of Fallot - Causes, Clinical Features, Diagnosis and Treatment
Fallot’s tetralogy is a rare and complex birth defect of the heart. Babies born with this condition turn blue (cyanosis) due to inadequate oxygen in their blood. Know more about Fallot’s tetralogy and its treatment... Read More
Birth Defects - Structural Defects - Neural Tube Defects - Hypospadias
A structural birth defect means that a specific body part is missing or mal-formed during the embryonic development... Read More
Solitary Kidney - Causes, Symptoms, Diagnosis, Treatment
Solitary kidney does not pose a grave health risk but it does require additional care. Find out how solitary kidney affects one’s health and quality of life and how to live with the condition. .. Read More
Prenatal Screening Test
Prenatal screening involves various tests to assess the risk of the unborn baby to be born with a chromosomal anomaly, neural tube defect or any birth defect... Read More
Polymelia - Causes, Symptoms, Diagnosis, Treatment & Prevention
Polymelia is a rare birth defect in which a baby is born with more than the usual number of limbs. Polymelia can be prevented with proper prenatal screening... Read More
Pentalogy of Cantrell (Birth Disorder) - Causes, Diagnosis & Treatment
Pentalogy of Cantrell or thoracoabdominal syndrome is an extremely rare birth disorder involving defects in the coverings of the organs within the abdominal cavity, the heart and its covering membrane, the breastbone and diaphragm. The exact cause is unknown... Read More
Obesity during Pregnancy: Know the Risks
Women with a body mass index >30 are obese and are at a higher risk for gestational diabetes during pregnancy. Macrosomia and birth defects are risks seen in the babies... Read More
Disorders Included in Newborn Screening
Disorders included in newborn screening in US and India are discussed. Most disorders are either inherited disorders or developmental defects in vital organs such as heart. Early diagnosis and prompt treatment of these are key to overall improved outcome... Read More

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