Tag: genetic conditions

  • VSD

    VSD

    Explore the complexities of Ventricular Septal Defect (VSD), a common congenital heart defect characterized by an abnormal opening in the heart’s ventricular septum. Discover its causes, symptoms, and treatment options, as well as important preventive measures and the significance of early diagnosis for better health outcomes. Dive into personal stories and expert insights that shed…

  • PI

    PI: Definition and Description of PI: PI, or Primary Immunodeficiency, is a collection of disorders characterized by defects in the immune system that lead to increased susceptibility to infections. It is often a genetic condition, affecting the body’s ability to produce adequate immune responses against foreign pathogens. The symptoms can range from mild to severe,…

  • Multiple Lentigines Syndrome

    Multiple Lentigines Syndrome: Definition and Description of Multiple Lentigines Syndrome: Multiple Lentigines Syndrome, also known as Leopard Syndrome, is a rare genetic condition characterized by the appearance of multiple lentigines, which are small, flat, brown or black spots that resemble freckles. These pigmented lesions primarily appear on the face, neck, and upper body but can…

  • Liposarcoma

    Liposarcoma Definition and Description of Liposarcoma Liposarcoma is a rare type of cancer that begins in the fat cells. It typically develops in deep soft tissues, such as those found in the limbs or abdominal cavity, and can occur in any part of the body where fatty tissue is present. This malignant tumor is classified…

  • Ichthyosis

    Ichthyosis Definition and Description of Ichthyosis Ichthyosis refers to a group of skin disorders characterized by dry, scaly skin. The term derives from the Greek word “ichthys,” meaning fish, which relates to the fish-like appearance of the skin in affected individuals. Ichthyosis is typically congenital, meaning it is present at birth, but it can also…

  • Gilbert Syndrome

    Gilbert Syndrome Definition and Description of Gilbert Syndrome Gilbert Syndrome is a common inherited condition that affects the liver’s ability to process bilirubin, a substance produced during the breakdown of red blood cells. This results in elevated levels of unconjugated bilirubin in the blood, often leading to a mild jaundice, most noticeable in the eyes…

  • Familial Jaundice

    Familial Jaundice Definition and Description of Familial Jaundice Familial jaundice, also known as hereditary jaundice, is a medical condition characterized by an increase in bilirubin levels in the blood, resulting in yellowing of the skin and the whites of the eyes (sclera). This condition is often a result of genetic factors that affect bilirubin metabolism…

  • Dolichostenomelia

    Understanding Dolichostenomelia Dolichostenomelia Definition and Description of Dolichostenomelia Dolichostenomelia is a medical condition marked by an excessive length of the limbs relative to the trunk. This condition can be assessed using various medical definitions, with one notable aspect being the disproportionate length of bones that leads to a distinct body appearance. Individuals with dolichostenomelia may…

  • A1AT Deficiency

    A1AT Deficiency Definition and Description of A1AT Deficiency Alpha-1 Antitrypsin Deficiency (A1AT deficiency) is a genetic disorder that results in insufficient levels of alpha-1 antitrypsin (A1AT), a protein produced in the liver. A1AT serves as a critical inhibitor of enzymes that can damage tissues, particularly in the lungs and liver. Without adequate A1AT, individuals may…

  • Cystic Hygroma

    Cystic Hygroma Definition and Description of Cystic Hygroma Cystic Hygroma is a fluid-filled sac that arises from the lymphatic system, most commonly found on the neck or head of infants and children. It appears as a soft, compressible mass and may vary in size. Medically, it is categorized as a type of lymphangioma, which is…