Tag: family history

  • Familial Alobar Holoprosencephaly

    Familial Alobar Holoprosencephaly Definition and Description of Familial Alobar Holoprosencephaly Familial Alobar Holoprosencephaly is a severe form of holoprosencephaly—a brain malformation that occurs when the forebrain does not properly separate into the two hemispheres. This condition is characterized by significant developmental issues which stem from improper formation of the brain and facial features. Individuals suffering…

  • Familial Multiple Polyposis

    Familial Multiple Polyposis Definition and Description of Familial Multiple Polyposis Familial Multiple Polyposis (FMP) refers to a genetic condition characterized by the development of numerous polyps in the gastrointestinal tract, particularly in the colon and rectum. These polyps are a type of abnormal growth that can potentially lead to colorectal cancer if not monitored and…

  • Duchenne Muscular Dystrophy

    Duchenne Muscular Dystrophy Definition and Description of Duchenne Muscular Dystrophy Duchenne Muscular Dystrophy (DMD) is a severe type of muscular dystrophy characterized by rapid progression of muscle degeneration, ultimately leading to loss of mobility and muscle wasting. DMD primarily affects boys, with onset typically during early childhood, and is caused by mutations in the dystrophin…

  • Colorectal Cancer

    Colorectal Cancer Definition and Description of Colorectal Cancer Colorectal cancer, which encompasses both cancer of the colon and rectum, is a form of cancer that begins in the large intestine (colon) or the rectum. It typically develops from polyps—small clumps of cells that form on the inner lining of the colon. Over time, some polyps…

  • Breast Cancer Risk Factors

    Breast Cancer Risk Factors Definition and Description of Breast Cancer Risk Factors Breast cancer risk factors are attributes, characteristics, or conditions that increase the likelihood of developing breast cancer. These factors can be divided into non-modifiable, such as age and family history, and modifiable factors, such as lifestyle choices including diet and exercise. Understanding these…

  • Birth Defects Testing

    Birth Defects Testing Definition and Description of Birth Defects Testing Birth defects testing refers to the medical procedures and evaluations conducted to identify congenital anomalies that may affect a newborn’s health and development. These tests can include blood tests, imaging studies, and genetic screenings designed to detect structural, functional, or chromosomal abnormalities present at birth.…

  • Bartter’s Syndrome

    Bartter’s Syndrome Definition and Description of Bartter’s Syndrome Bartter’s Syndrome is a rare, inherited kidney disorder characterized by a defect in the tubules of the kidneys. This defect impairs the body’s ability to reabsorb sodium and chloride, leading to an imbalance of electrolytes. Patients with Bartter’s Syndrome typically experience symptoms of hypokalemia (low potassium levels),…

  • ALD

    ALD Definition and Description of ALD Adrenoleukodystrophy (ALD) is a genetic disorder that affects the adrenal glands and the white matter of the brain. It is caused by the inability to metabolize very long-chain fatty acids (VLCFAs) due to mutations in the ABCD1 gene located on the X chromosome. This leads to the accumulation of…