Neurofibromatosis type 1 with plexiform neurofibromas: Neurofibromatosis Type 1 (NF1) is a genetic disorder characterized by the development of multiple nerve sheath tumors, known as…
Multiple Endocrine Neoplasia (MEN) is a rare genetic disorder characterized by the development of tumors in multiple endocrine glands. These tumors can be benign or…
Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a rare lysosomal storage disorder caused by a deficiency of the β-glucuronidase (GUSB) enzyme.…
Mucopolysaccharidosis type IV-A (MPS IV-A), also known as Morquio A syndrome, is a rare lysosomal storage disorder caused by a deficiency of the enzyme N-acetylgalactosamine-6-sulfatase…
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2-sulfatase…
Methylmalonic acidemia (MMA) is a rare inherited metabolic disorder that affects the body’s ability to break down certain proteins and fats. It results from a…
Methemoglobinemia is a rare but potentially serious blood disorder where methemoglobin levels in the blood rise abnormally, impairing oxygen delivery to tissues. This condition can…
Marginal zone lymphoma (MZL) is a slow-growing, rare form of B-cell non-Hodgkin lymphoma (NHL) that arises from the marginal zone of lymphoid tissue. It is…
Malignant hyperthermia (MH) is a rare but potentially fatal condition triggered by certain anesthetic agents and muscle relaxants. It is characterized by a rapid increase…
Klinefelter's Syndrome (KS) is a genetic disorder affecting males, caused by the presence of an extra X chromosome (XXY). This condition impacts physical and cognitive…