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10 Genetic Diseases

Genetic diseases, once a mystery, have come to the forefront of medicine in recent years. The Human Genome Project has allowed science to understand and, in some cases, treat diseases formerly misunderstood.

  1. Downs Syndrome

    • A genetic disease caused by abnormalities on the 21st chromosome, Down syndrome is the leading genetic cause of mental retardation. Symptoms of the disease include flattened faces and noses, short fingers, slant-shaped eyes and misshaped ears. Complications with the heart and susceptibility to infectious diseases are common complications.

    Bloom's Syndrome

    • Bloom's Syndrome affects approximately one in every 110 Ashkenazi Jews. Both parents must be carriers of the affected gene to pass it on to their children. Symptoms include facial rash, narrowed face, enlarged nose and a high-pitched voice. People with the syndrome are more susceptible to certain types of cancer.

    Noonan Syndrome

    • Noonan Syndrome relates to defects in one of four chromosomes. You can inherit the disease from parents, or it may develop after birth randomly. Symptoms of the disease include wide-set eyes and flattened noses in infants and lack of expression, widened face and a web-neck in adults.

    Progeria

    • Progeria is a genetic disorder that causes accelerated aging. Symptoms include slowed growth rate, hair loss, enlarged head, bulging veins, loose skin and stiff joints. There is no cure for Progeria, and most patients die of heart disease or stroke before puberty.

    Triple X Syndrome

    • Also referred to as Trisomy X, this disease is the result of an additional X chromosome in females. This disease is not inherited and randomly occurs approximately once out of every 1,000 females. Excessive height and learning disabilities are related to the syndrome.

    Prader-Willi Syndrome

    • Prader-Willi Syndrome is a result of a defect on the 15th chromosome. Symptoms of the disease include small hands and feet, delayed mental abilities, obesity and lack of normal height. Sometimes treated with hormone therapy, there is no cure for the disorder.

    Turner's Syndrome

    • Turner's syndrome occurs when one of the X chromosomes in a female zygote is missing. Symptoms include lack of growth and failure of the female organs to develop. Those suffering with the disease are at risk for heart failure, kidney failure and hearing loss.

    Fragile X

    • The condition is due to an unstable or incomplete X chromosome and causes mental disabilities in people who suffer from it. Older patients have tremors, and many with Fragile X have physical disabilities that accompany the slowed learning and developmental rate.

    Celiac Disease

    • Celaiac Disease is a genetic disorder that causes digestive issues. Patients cannot tolerate gluten and gluten-laden products. Undiagnosed, the disease can lead to malnutrition due to diarrhea. Other symptoms of the disease include abdominal bloating and pain.

    Sickle Cell Anemia

    • An inherited disease, sickle cell anemia is identifiable by a low healthy red blood cell count. The red blood cells become hard, sickle shaped, and do not carry oxygen throughout the body. Vision issues, pain and delayed growth are all identified symptoms of the disease.

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