Tag: genetics

  • Soft Tissue Sarcoma

    Soft Tissue Sarcoma: Definition and Description of Soft Tissue Sarcoma: Soft tissue sarcoma is a rare and diverse group of cancers that begin in the connective tissues of the body, including muscles, fat, blood vessels, nerves, and tissues surrounding joints. These sarcomas can arise anywhere in the body, though they are most commonly found in…

  • Sickle Cell Crisis

    Sickle Cell Crisis: Definition and Description of Sickle Cell Crisis: Sickle Cell Crisis, often referred to as a sickle cell pain crisis, is a painful episode associated with sickle cell disease (SCD), a hereditary blood disorder characterized by the presence of abnormal hemoglobin known as hemoglobin S. This abnormality causes red blood cells to become…

  • Schereshevkii-Turner Syndrome

    Schereshevkii-Turner Syndrome: Definition and Description of Schereshevkii-Turner Syndrome: Schereshevkii-Turner Syndrome, often referred to simply as Turner Syndrome, is a chromosomal condition that affects development in females. It results from a complete or partial absence of one of the two X chromosomes, which can lead to various physical and developmental traits. Individuals with Turner Syndrome typically…

  • Macular Degeneration

    Macular Degeneration Definition and Description of Macular Degeneration Macular Degeneration, also known as age-related macular degeneration (AMD), is a progressive eye condition that affects the macula, the part of the retina responsible for central vision. It is characterized by the deterioration of the macula, leading to a gradual loss of vision. There are two main…

  • Klinefelter Syndrome

    Klinefelter Syndrome Definition and Description of Klinefelter Syndrome Klinefelter Syndrome is a genetic condition that occurs in males who have an extra X chromosome, resulting in a total of 47 chromosomes instead of the usual 46. This condition affects physical and cognitive development, leading to a variety of symptoms that can vary in severity. It…

  • Iron Overload Anemia

    Iron Overload Anemia Definition and Description of Iron Overload Anemia Iron Overload Anemia, also known as hemochromatosis, is a condition characterized by excessive iron accumulation in the body, leading to tissue damage and various health complications. This disorder can occur when the body absorbs too much iron from food or blood transfusions, outpacing the body’s…

  • Inherited Lipodystrophy

    Inherited Lipodystrophy Definition and Description of Inherited Lipodystrophy Inherited Lipodystrophy is a rare genetic disorder characterized by the abnormal distribution of body fat. It results in a significant loss of adipose tissue in some regions of the body while causing an accumulation in others, often leading to metabolic disorders. The condition can be classified as…

  • Huntington’s Chorea (HD)

    Huntington’s Chorea (HD) Definition and Description of Huntington’s Chorea (HD) Huntington’s Chorea, also known as Huntington’s Disease (HD), is a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms. This condition is caused by a genetic mutation in the HTT gene, which leads to the production of an abnormal form of…

  • HLHS

    HLHS Definition and Description of HLHS Hypoplastic Left Heart Syndrome (HLHS) is a complex congenital heart defect characterized by the underdevelopment of the left side of the heart. This condition severely affects the heart’s anatomy, impacting the left ventricle, aorta, and mitral valve. This lack of proper development leads to inadequate blood flow to the…

  • HHT

    HHT Definition and Description of HHT Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder affecting blood vessels, characterized by the presence of abnormal vascular malformations. Individuals with HHT experience telangiectasias, or small, dilated blood vessels, which can lead to recurrent nosebleeds and other bleeding complications. Medically, HHT is classified as an autosomal dominant condition, meaning…