Tag: family history

  • Mucopolysaccharidoses

    Mucopolysaccharidoses: Definition and Description of Mucopolysaccharidoses: Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders caused by the deficiency of specific enzymes necessary to break down glycosaminoglycans (GAGs), which are long chains of sugar molecules. These enzymes play a vital role in metabolism, and their deficiency leads to the accumulation of GAGs in various…

  • Malignant Appendical Tumor

    Malignant Appendical Tumor Definition and Description of Malignant Appendical Tumor A malignant appendical tumor is a rare type of neoplasm that arises from the appendix. These tumors can be classified as primary or secondary. Primary malignant appendiceal tumors are those that originate in the appendix, while secondary tumors are metastatic lesions that have spread from…

  • Lipoma

    Lipoma Definition and Description of Lipoma A lipoma is a benign tumor made up of adipose (fat) tissue. It is typically soft to the touch, movable, and painless, appearing just below the skin. Lipomas can occur anywhere in the body, but they are most commonly found on the torso, arms, and thighs. Medically, a lipoma…

  • Lamellar Ichthyosis

    Lamellar Ichthyosis Definition and Description of Lamellar Ichthyosis Lamellar Ichthyosis is a rare genetic skin condition characterized by the formation of large, plate-like scales on the skin. It is a type of congenital ichthyosis, which means it is present at birth. The condition results from a defect in the skin’s ability to shed dead skin…

  • Infantile Gaucher Disease

    Infantile Gaucher Disease Definition and Description of Infantile Gaucher Disease Infantile Gaucher Disease is a rare genetic disorder that primarily affects infants and continues into childhood. It is caused by a deficiency of the enzyme glucocerebrosidase, which is essential for breaking down a type of fat called glucocerebroside. The accumulation of this fat in various…

  • 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…

  • Icterus (Chronic Familial)

    Icterus (Chronic Familial) Definition and Description of Icterus (Chronic Familial) Icterus, more commonly known as jaundice, represents a yellowing of the skin and the whites of the eyes caused by an accumulation of bilirubin in the bloodstream. Chronic Familial Icterus refers to a genetically inherited condition that leads to persistent jaundice due to the body’s…

  • Galactocerebrosidase (GALC) Deficiency

    Galactocerebrosidase (GALC) Deficiency Definition and Description of Galactocerebrosidase (GALC) Deficiency Galactocerebrosidase (GALC) deficiency is a rare inherited metabolic disorder characterized by the deficiency of the galactocerebrosidase enzyme. This enzyme is essential for the breakdown of galactolipids, which are crucial components of myelin, the protective sheath that surrounds nerve fibers in the central nervous system. The…

  • GALT Deficiency

    GALT Deficiency Definition and Description of GALT Deficiency GALT Deficiency, or Galactose-1-Phosphate Uridyltransferase Deficiency, is a rare genetic disorder that affects the body’s ability to metabolize galactose, a sugar found in milk and dairy products. This condition results from mutations in the GALT gene, which provides instructions for producing the GALT enzyme. Without adequate levels…

  • Fallot’s Tetralogy

    Fallot’s Tetralogy Definition and Description of Fallot’s Tetralogy Fallot’s Tetralogy is a congenital heart defect that comprises four anatomical abnormalities of the heart: ventricular septal defect (VSD), pulmonary stenosis, right ventricular hypertrophy, and an overriding aorta. This condition results in insufficient oxygenation of the blood, leading to cyanosis, or a bluish discoloration of the skin.…