Tag: awareness and education
Syringomyelia
Syringomyelia: Definition and Description of Syringomyelia: Syringomyelia is a rare neurological condition characterized by the development of a fluid-filled cyst, known as a syrinx, within the spinal cord. This syrinx can expand and elongate over time, leading to the disruption of normal spinal cord function. Typically associated with conditions such as Chiari malformation, where brain…
PI
PI: Definition and Description of PI: PI, or Primary Immunodeficiency, is a collection of disorders characterized by defects in the immune system that lead to increased susceptibility to infections. It is often a genetic condition, affecting the body’s ability to produce adequate immune responses against foreign pathogens. The symptoms can range from mild to severe,…
Mucopolysaccharidosis Type II
Mucopolysaccharidosis Type II: Definition and Description of Mucopolysaccharidosis Type II: Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare genetic disorder that falls under the category of lysosomal storage diseases. It is caused by a deficiency of the enzyme iduronate-2-sulfatase (I2S), which plays a crucial role in breaking down glycosaminoglycans (GAGs).…
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…
Achondroplastic Dwarfism
Achondroplastic Dwarfism Definition and Description of Achondroplastic Dwarfism Achondroplastic Dwarfism is a genetic disorder characterized by an abnormality in the development of cartilage, particularly affecting the long bones of the body. It results in disproportionate dwarfism, where individuals typically have a normal-sized torso but shorter limbs. This condition is caused by a mutation in the…