Metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate is a rare genetic disorder, significantly impacting those who are affected. This condition is characterized by abnormal bone growth, specifically in the metaphyses, which are the wide portions of the long bones near the joints. A key biochemical hallmark of this disorder is the increased excretion of […]
Symptoms of NLRP3 Gene Muckle-Wells Syndrome Genetic Test Muckle-Wells Syndrome (MWS) is a rare genetic disorder that falls under the umbrella of cryopyrin-associated periodic syndromes (CAPS). It is primarily characterized by recurrent episodes of fever, rash, and joint pain. These symptoms are a result of inflammation caused by mutations in the NLRP3 gene, which plays […]
Majeed Syndrome is a rare genetic disorder that primarily affects the bones, skin, and inflammatory system of the body. This condition is caused by mutations in the LPIN2 gene, which plays a crucial role in the body’s metabolic processes and immune response. Individuals with Majeed Syndrome often experience a range of symptoms from early childhood, […]
Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare genetic disorder characterized by progressive destruction of the carpal and tarsal bones – the bones of the wrists and ankles, respectively. This condition often begins in early childhood and can lead to various symptoms and complications if left undiagnosed or untreated. The MAFB gene has been identified […]
Symptoms of FBLIM1 Gene Kindler Syndrome Genetic Test Kindler Syndrome is a rare genetic disorder that affects the skin and mucous membranes. It is caused by mutations in the FBLIM1 gene, which plays a crucial role in the development and maintenance of epithelial tissues. Individuals with Kindler Syndrome may experience a wide range of symptoms, […]
Symptoms of FERMT1 Gene Kindler Syndrome Genetic Test Kindler Syndrome is a rare genetic disorder that affects the skin primarily, but can also have systemic implications. It is caused by mutations in the FERMT1 gene, which plays a crucial role in the connection between cells and their surrounding extracellular matrix. This connection is vital for […]
Laryngoonychocutaneous syndrome is a rare genetic disorder that affects various parts of the body, including the larynx (voice box), nails, and skin. This condition is caused by mutations in the LAMA3 gene, which plays a crucial role in the development and maintenance of these tissues. Recognizing the symptoms of this syndrome early on can be […]
Legg-Calve-Perthes Disease (LCPD) is a rare condition that affects the hip joint in children. It occurs when blood supply to the femoral head (the ball part of the hip) is temporarily disrupted, causing the bone to die. This can lead to pain, stiffness, and eventually, joint deformity. Understanding the genetic underpinnings of this disease, particularly […]
Legius syndrome, also known as SPRED1 syndrome, is a rare genetic condition that is often mistaken for Neurofibromatosis type 1 (NF1) due to the overlap in symptoms. It is caused by mutations in the SPRED1 gene, which plays a crucial role in the regulation of cell growth and differentiation. Understanding the symptoms of Legius syndrome […]
Leukocyte adhesion deficiency type 3 (LAD3) is a rare genetic disorder that affects the immune system’s ability to function properly. It is caused by mutations in the FERMT3 gene, which plays a crucial role in the process of leukocytes (white blood cells) adhering to the blood vessel walls. This adhesion is essential for the immune […]
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