List of Genetic Disorders


Genetic disorders are caused by mutations in the genes and therefore there is no way of preventing a genetic disorder before birth. The list of genetic disorders is quite long but some of the well-known genetic disorders include:

  • Down’s Syndrome
This genetic disorder is named after Dr. John Langdon Down who first discovered it in 1866 in Great Britain. People affected by this disease have 47 chromosomes instead of the normal 46. This hereditary disorder affects an individual’s physical and facial appearance and his or her cognitive abilities.

  • Celiac Disease
This autoimmune disorder damages the small intestine and prevents it from absorbing food parts vital for staying healthy. It is also commonly known as gluten intolerance or gluten-sensitive enteropathy. Celiac disease may develop in men and women of any age from infancy to late adulthood but studies show that women are more affected by this disease as compared to men.

  • Angelman Syndrome
This is a rare genetic disorder caused by neurogenetic factors. People suffering from this condition may experience symptoms like jerky hand movements, sleep problems, speech problems, uncontrollable smiling, or laughter, and a constant appearance of being happy.

  • Cri du Chat Syndrome
This is a rare genetic disease that affects women more than men. Babies affected by this disorder generally having a peculiar cry like that of a kitten. This is mainly because of problems with the larynx and the nervous system. Children affected by this disorders usually experience issues like feeding problems, difficulty in swallowing, low birth weight, delay in evolution, delays in speech, motor skills and cognitive behavior and odd facial traits that keep changing with time.
 
  • Cystic fibrosis
This inherited genetic disorder affects the entire body causing gradual disability and eventually death. People affected by this disorder often have difficulty breathing, lung infections, and a lower production of enzymes in the pancreas. Although doctors treat the symptoms with oral and intravenous antibiotics, this condition can never be cured completely.

  • Klinefelter Syndrome
This genetic disorder is the result of chromosomal abnormalities and affects the sexual development in males. Men affected by this disorder usually have an additional X-chromosome that in turn causes other problems like infertility, Gynecomastia, sexual problems, smaller testicles, abnormal body proportions, and less body hair.

  • Alzheimer’s Disease
This neurological genetic disorder causes an irreversible memory loss and loss of intellectual ability. This severely affects an individual’s occupational and social functioning. It is one of the most common forms of dementia that progresses rapidly and eventually leads to death.

  • Sickle Cell Anemia
This is a genetic disorder where the red blood cells of the patient have an odd crescent shape as opposed to the normal disc shape. An abnormal hemoglobin known as hemoglobin S, causes sickle cell anemia and this in turn affects the supple of oxygen to the various tissues in the body.

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