Genetic Disorders

Definition Phenylketonuria (PKU) is a rare, but potentially serious, inherited disorder. Our bodies break down protein in foods like meat and fish into amino acids, which are the “building blocks” of protein. These amino acids are then used to make our own proteins. Any amino acids that aren’t needed are …

Definition Progeria or  Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder which causes children to age rapidly. The first signs of this disorder can be seen as early as within two years of life of the child. When born, children with Hutchinson-Gilford Progeria Syndrome appear normal without any …

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 …