• Autoimmune and Rare Diseases,  Digestive System

    Klippel-Feil syndrome

    The Klippel-Feil syndrome is a rare developmental disorder characterized by anomalies of the cervical vertebrae. As a result of this condition, fusion of two or more cervical vertebrae occurs, which can lead to various restrictions in movement. Those affected often suffer from limited neck mobility, which can have a significant impact on their quality of life. Various physical characteristics can be observed among individuals living with the syndrome, such as a shorter neck and a lower hairline, which are visible symptoms of the condition. Although the presence of Klippel-Feil syndrome may remain unnoticed during childhood, symptoms can worsen in adulthood. According to current medical understanding, the exact cause of the…

  • Beauty and Personal Care,  Exercise and Sports

    Marble Bone Disease: Symptoms and Treatment Options for Osteopetrosis

    The marble bone disease, also known as osteopetrosis, is an extremely rare and unique genetic condition characterized by the pathological thickening of bones. The essence of the disease is that the mineral content of bone tissue, particularly calcium, significantly increases, causing the bones to appear white like marble on X-rays. The underlying cause of this condition is a decrease in the number or dysfunction of bone-resorbing cells, namely osteoclasts. The appearance and course of this disease have often sparked scientific interest, but descriptions made for the sake of popularization often contain exaggerations. Writings and films about marble bone disease frequently fail to convey the true severity and consequences of the…

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