Tag: diagnosis

  • Ectopia Cordis

    Ectopia Cordis Definition and Description of Ectopia Cordis Ectopia Cordis is a rare congenital defect in which the heart is partially or totally located outside of the thoracic cavity. This condition occurs during embryonic development, typically between the third and fourth week of gestation, when the chest wall fails to close properly. Ectopia Cordis can…

  • Ectopic Pregnancy

    Ectopic Pregnancy Definition and Description of Ectopic Pregnancy Ectopic Pregnancy is a medical condition in which a fertilized egg implants outside the uterus, most commonly in the fallopian tubes, but it can also occur in the ovaries, abdomen, or cervix. This abnormal implantation can lead to serious complications, as the growing tissue can cause the…

  • DMD

    Duchenne Muscular Dystrophy (DMD) – A Comprehensive Guide Duchenne Muscular Dystrophy (DMD) Definition and Description of DMD Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. This condition is caused by a mutation in the dystrophin gene, which is critical for maintaining the structural integrity of muscle cells. DMD…

  • Dowling-Meara Syndrome

    Dowling-Meara Syndrome Definition and Description of Dowling-Meara Syndrome Dowling-Meara Syndrome is a rare genetic disorder characterized primarily by palmoplantar keratoderma, which is a thickening of the skin on the palms and soles. It is considered a form of keratoderma that can also involve the nails and may lead to pain and complications in mobility. As…

  • Down Syndrome

    Down Syndrome Definition and Description of Down Syndrome Down Syndrome, also known as Trisomy 21, is a genetic disorder caused by the presence of an extra 21st chromosome. This condition leads to developmental delays, distinct facial features, and a range of health issues. Medically, Down Syndrome can be classified into three types: Standard Trisomy 21,…

  • Drooping Eyelids

    Drooping Eyelids Definition and Description of Drooping Eyelids Drooping eyelids, also known as ptosis, refer to a condition where one or both upper eyelids sag. This can occur due to a variety of reasons ranging from age-related changes to underlying medical conditions. Medical professionals describe ptosis as a malposition of the eyelid, which can obstruct…

  • Drug Allergies

    Drug Allergies Definition and Description of Drug Allergies A drug allergy is an abnormal reaction by the immune system to a medication. This condition occurs when the immune system mistakenly identifies a drug as a harmful substance. The body then produces antibodies to fight off the perceived threat, leading to various allergic reactions. According to…

  • Difficulty Swallowing (Dysphagia)

    Difficulty Swallowing (Dysphagia) Definition and Description of Difficulty Swallowing (Dysphagia) Difficulty swallowing, medically known as dysphagia, refers to the sensation of food or liquid becoming stuck in the throat or chest, or a delay in the swallowing process. It can range from mild difficulties to a complete inability to swallow, also known as aphagia. Dysphagia…

  • 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…

  • Diabetes Insipidus

    Diabetes Insipidus Definition and Description of Diabetes Insipidus Diabetes Insipidus (DI) is a rare disorder that occurs when the kidneys are unable to conserve water, resulting in excessive urination and thirst. In this condition, the body lacks adequate antidiuretic hormone (ADH), also known as vasopressin, produced by the hypothalamus and stored in the pituitary gland.…