Tag: diagnosis

  • Tay-Sachs Disease

    Tay-Sachs Disease: Definition and Description of Tay-Sachs Disease: Tay-Sachs Disease is a rare, genetic disorder caused by the absence of a vital enzyme called Hexosaminidase A (Hex-A). This enzyme is essential for breaking down a fatty substance known as GM2 ganglioside in the brain and nerve cells. When Hex-A is deficient, GM2 gangliosides accumulate to…

  • TCS

    TCS: Definition and Description of TCS: TCS, or Tarsal Coalition Syndrome, is a condition characterized by the abnormal fusion of two or more bones in the tarsus, which is located in the hindfoot of the foot. This condition can result in pain, limited movement, and deformity. It often presents in children but can also be…

  • TD

    TD: Definition and Description of TD: Tardive Dyskinesia (TD) is a neurological disorder characterized by involuntary, repetitive body movements, often resulting from long-term use of antipsychotic medications. It primarily affects the facial muscles, but can also involve the limbs and trunk. The condition arises as a side effect of medications that block dopamine receptors, leading…

  • Teen Drug Abuse

    Teen Drug Abuse: Definition and Description of Teen Drug Abuse: Teen drug abuse refers to the illegal or inappropriate use of substances among individuals aged 12 to 18. This includes the consumption of illicit drugs as well as the misuse of prescription medications, alcohol, and tobacco. According to the National Institute on Drug Abuse (NIDA),…

  • Systemic Mastocytosis

    Systemic Mastocytosis: Definition and Description of Systemic Mastocytosis: Systemic Mastocytosis is a rare disorder characterized by the abnormal proliferation of mast cells in various tissues and organs, including the bone marrow, liver, spleen, and skin. Mast cells are a type of white blood cell involved in allergic responses and regulating immune responses. In systemic mastocytosis,…

  • Sudanophilic Leukodystrophy

    Sudanophilic Leukodystrophy: Definition and Description of Sudanophilic Leukodystrophy: Sudanophilic Leukodystrophy is a rare genetic disorder that primarily affects the myelin sheath, the protective covering of nerves in the brain and spinal cord. This condition is categorized under leukodystrophies, which are a group of inherited or acquired disorders that disrupt the growth or maintenance of the…

  • Sweet Syndrome

    Sweet Syndrome: Definition and Description of Sweet Syndrome: Sweet Syndrome, also known as acute febrile neutrophilic dermatosis, is a rare inflammatory skin condition characterized by the sudden appearance of painful skin lesions, fever, and elevated white blood cell counts. Initially described by Dr. Robert Sweet in 1964, this syndrome typically manifests as tender, red or…

  • Swollen Lymph Nodes

    Swollen Lymph Nodes: Definition and Description of Swollen Lymph Nodes: Swollen lymph nodes, also known as lymphadenopathy, refer to the enlargement of lymph nodes, which are small, bean-shaped structures that are part of the body’s lymphatic system. The lymphatic system plays a crucial role in immune function, transporting lymph—a fluid containing infection-fighting white blood cells—throughout…

  • Symmastia

    Symmastia: Definition and Description of Symmastia: Symmastia is a rare congenital condition characterized by the fusion of the breasts across the midline of the chest. Unlike normal anatomical development, where breasts are separate and well-defined, individuals with symmastia exhibit a contiguous breast tissue that may extend from one side of the chest to the other.…

  • Syndactylic Oxycephaly

    Syndactylic Oxycephaly: Definition and Description of Syndactylic Oxycephaly: Syndactylic Oxycephaly is a rare congenital condition characterized by the fusion of the fingers and/or toes (syndactyly) alongside craniosynostosis, which is the premature fusion of skull bones. This condition can result in distinctive facial features and abnormalities in head shape due to altered cranial and facial growth.…