Genetic Disorders And Birth Defects

A genetic disorder is a hereditary disease caused by changes in the DNA. It is usually the result of mutation in one or multiple genes. A combination of gene mutations, environmental factors and damage to chromosomes may also result in genetic disorders.

Congenital Heart disease

Congenital Heart disease

Congenital heart disease is a structural abnormality of the heart present at birth. The defect is usually present in the blood vessels near the heart, which obstructing the blood flow. There are two types of congenital disease: cyanotic (the skin becomes blue in colour due to lack of oxygen) and non cyanotic. The exact cause of the disease is not identified in most cases. However, retinoic acids, chemicals, alcohol and infection with rubella virus during pregnancy may be a factor for congenital heart problems. According to a study published in the India Academy of Paediatrics, congenital heart disease is a condition seen in every 3.9 births per 1000 births in India. As described by Dr Amar Singhal, ‘ Congenital heart disease is a defect in the heart at the time of birth. It is the structural or functional malfunctioning of the heart that is caused during its formation. While in some cases these defects are caught right after birth, in other cases it may be reported later on in the child’s life.’

View More
Cystic fibrosis

Cystic fibrosis

Verified

Cystic fibrosis is a chronic genetic disease affecting both the lungs and the gastrointestinal system. It is caused by a gene defect that is passed on to children having parents who carry a defective gene. The defective gene codes for a protein that causes the lungs to produce a sticky, dense mucus. Gradually, the mucus clogs the lungs and causes multiple lung infections that might be fatal. Moreover, it affects the normal functioning of pancreas by obstructing the production of certain substances (enzymes) required by the body to digest and absorb food. Cystic fibrosis is known to be the most common cause of fatality because of end-stage lung disease.

View More
Dr. Sachin Shelke

Genetic Disorders And Birth Defects News

View All

Health A-Z

Find a topic by its first letter

Genetic Disorders And Birth Defects Videos

View All

Genetic Disorders And Birth Defects Photos

View All

Latest News

View All