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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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Snhg11 Gene: Key Down Syndrome Memory & Cognitive Deficits
The Snhg11 gene plays a vital role in the function and development of neurons in the hippocampus. Studies reveal the reduced activity of this gene in .....
Gene Dyrk1a Linked to Heart Defects in Down Syndrome Identified
Leveraging genetic mapping, scientists pinpointed a gene on human chromosome 21 named Dyrk1a. In the mouse model of Down syndrome, .....
PARMESAN: New AI Tool Revolutionizing Genetic Disorder Treatments
The PARsing ModifiErS via Article aNnotations (PARMESAN) tool, an NLP tool, is capable of searching for current information, compiling it into a cent.....
How Can Caregivers Best Address Gynecological Needs in Down Syndrome Women?
A cross-sectional study carried out by Brazilian researchers delved into the worries of caregivers of Brazilian girls with Down syndrome
Genetic Basis of Facial Changes in Down Syndrome Revealed
In Down Syndrome, a 3rd copy of the gene Dyrk1a and three other genes were found to be linked to the changes in the structure and s.....


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
Superior Canal Dehiscence
Superior canal dehiscence (SCD) results from a break in the bone above the semicircular canal, caused either by birth defects or due to a head trauma... 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
RSV (Respiratory Syncytial Virus) in Children
Respiratory syncytial virus (RSV) is a major cause of lower respiratory tract infections. RSV infection is usually mild and self-limiting but symptoms may be severe in young children, the elderly and those with a weak immunity... 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



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