Tag: Hereditary Conditions
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XP
Discover the vital insights about Xeroderma Pigmentosum (XP), a rare genetic disorder that heightens sensitivity to ultraviolet rays, leading to severe skin complications and increased cancer risk. Learn about its causes, symptoms, diagnosis, and essential management strategies, including the importance of sun protection and community support resources for those affected.
Recessive X-linked Ichthyosis
Recessive X-linked Ichthyosis: Definition and Description of Recessive X-linked Ichthyosis: Recessive X-linked Ichthyosis (RXLI) is a genetic skin disorder primarily affecting males, characterized by dry, scaly skin. It results from mutations in the STS gene, which is located on the X chromosome. This disorder disrupts the normal functioning of the enzyme steroid sulfatase, leading to…
Ocular Motor Apraxia, Cogan Type
Ocular Motor Apraxia, Cogan Type: Definition and Description of Ocular Motor Apraxia, Cogan Type: Ocular Motor Apraxia, Cogan Type is a rare neurological condition characterized by an inability to initiate voluntary eye movements, particularly saccadic movements—those quick, simultaneous movements of both eyes in the same direction. This disorder is typically associated with dysfunction in the…
Iceland Disease
Iceland Disease Definition and Description of Iceland Disease Iceland Disease, often referred to in medical circles as a rare hereditary disorder, is characterized by the presence of specific genetic mutations that result in unique phenotypic expressions. This condition is primarily associated with changes in the skin and connective tissues. Those affected by Iceland Disease may…
Guenther Porphyria
Guenther Porphyria Definition and Description of Guenther Porphyria Guenther Porphyria, also known as Erythropoietic Protoporphyria (EPP), is a rare genetic disorder that affects the body’s ability to produce heme, a vital component of hemoglobin in red blood cells. This condition leads to the accumulation of protoporphyrin in the skin and liver, causing various symptoms. Individuals…
Familial Adenomatous Polyposis
Familial Adenomatous Polyposis Definition and Description of Familial Adenomatous Polyposis Familial Adenomatous Polyposis (FAP) is a hereditary condition characterized by the development of numerous polyps in the lining of the colon and rectum. These polyps usually begin to form in the teenage years and can escalate to hundreds or even thousands over time. FAP significantly…
Familial Cutaneous Amyloidosis
Familial Cutaneous Amyloidosis Definition and Description of Familial Cutaneous Amyloidosis Familial Cutaneous Amyloidosis is a rare genetic disorder characterized by the deposition of amyloid protein in the skin. Amyloid is an abnormal protein produced by cells in the bone marrow and can accumulate in various tissues and organs. In familial cutaneous amyloidosis, this deposition primarily…
Familial Multiple Polyposis
Familial Multiple Polyposis Definition and Description of Familial Multiple Polyposis Familial Multiple Polyposis (FMP) refers to a genetic condition characterized by the development of numerous polyps in the gastrointestinal tract, particularly in the colon and rectum. These polyps are a type of abnormal growth that can potentially lead to colorectal cancer if not monitored and…
Familial Primary Pulmonary Hypertension
Familial Primary Pulmonary Hypertension Definition and Description of Familial Primary Pulmonary Hypertension Familial Primary Pulmonary Hypertension (FPPH) is a genetic condition characterized by elevated pulmonary arterial pressure due to unknown mechanisms. It specifically affects the blood vessels in the lungs, leading to increased resistance to blood flow. As a result, the heart has to work…
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy Definition and Description of Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy (FSHD) is a genetic disorder characterized by progressive weakness and wasting of the muscles in the face, shoulders, and upper arms. It is one of the most common types of muscular dystrophy, affecting approximately 1 in 20,000 people worldwide. FSHD is caused…