Genetic Disorders

Definition Neurofibromatosis is a genetic disorder that causes tumors to form on nerve tissue. These tumors can develop anywhere in your nervous system, including your brain, spinal cord and nerves. Neurofibromatosis is usually diagnosed in childhood or early adulthood. Neurofibromatosis Types of Neurofibromatosis The three types of neurofibromatosis are Nf1, …

Definition Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Fragile X  syndrome affected boy History In 1943, Martin and Bell showed that a particular form of mental …

Definition Albinism includes a group of inherited disorders that are characterized by little or no production of the pigment melanin. The type and amount of melanin your body produces determines the color of your skin, hair and eyes. Most people with albinism are sensitive to sun exposure and are at …

Edward’s Syndrome – Definition Edward’s Syndrome is also known as Trisomy 18 (T18) or Trisomy E. It is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. The majority of people with the syndrome die during the fetal stage; infants who survive experience …

Introduction AAA syndrome is a rare autosomal recessive disorder characterized by adrenocorticotropic hormone (ACTH)-resistant adrenal insufficiency, alacrima and achalasia. Primary adrenal insufficiency or also known as Addison disease, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison …

Definition Turner syndrome is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function. Other features of this condition that can vary among women who have …

Definition Poland syndrome is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals.   History It was …

Definition Gaucher disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function. History It was in 1882 that a medical student in Paris called Philippe Gaucher first described in his …