Tag: rare disease

  • Murk Jansen Metaphyseal Chondrodysplasia

    Murk Jansen Metaphyseal Chondrodysplasia: Definition and Description of Murk Jansen Metaphyseal Chondrodysplasia: Murk Jansen Metaphyseal Chondrodysplasia is a rare genetic disorder characterized by abnormal development of the bones and cartilage. This form of chondrodysplasia typically presents with metaphyseal widening, short stature, and skeletal deformities. It is inherited in an autosomal recessive pattern, indicating that both…

  • MPS Disorder I

    MPS Disorder I: Definition and Description of MPS Disorder I: MPS (Mucopolysaccharidosis) Disorder I, also known as Hurler syndrome or MPS I, is a rare genetic disorder caused by a deficiency of the enzyme alpha-L-iduronidase. This enzyme is responsible for the breakdown of glycosaminoglycans (GAGs), which are long chains of sugar molecules in the body.…

  • 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…

  • 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…