Mindblown: a blog about philosophy.
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Yunis-Varon syndrome
Yunis-Varon syndrome is a disorder that involves effects of varying degrees in growth and development of the skeletal, ectodermal, central nervous, and cardiovascular systems. Since the disorder’s identification in 1983 by Yunis and Varon, there have been approximately 13 cases reported in the literature. Research suggests that the disorder may be inherited either as an…
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XXX syndrome
XXX syndrome is a disorder in which affected females have three X chromosomes. It may also be referred to as Chromosome X, Triplo-X, and Chromosome 47, XXX karyotype. XXX syndrome was first described by P. A. Jacobs in the Lancet in 1959. It is the most frequent X chromosomal anomaly in females. The incidence of…
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Xeroderma pigmentosum
Xeroderma pigmentosum (XP) is an autosomal recessive disorder characterized by extreme photosensitivity of the skin and eyes. Even minimal sun exposure can result in blistering of the skin, freckling, or both. The disorder is due to a defect in the ability of the cell to repair DNA damaged by ultraviolet (UV) radiation. The deficiency is…
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X-linked lymphoproliferative syndrome
X-linked lymphoproliferative syndrome (XLP) is an inherited immunodeficiency disorder characterized by one or more of three major phenotypic presentations. These presentations include a defective response to infection with the Epstein-Barr virus (EBV), acquired hypogammaglobulinemia, and malignant B-cell lymphoma (National Organization for Rare Disorders, 2001). Patients exhibit a range of symptoms, including life-threatening EBV infection, lymphoma…
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X-linked hydrocephalus syndrome
X-linked hydrocephalus is one type of congenital hydrocephalus that results when circulation and absorption of the cerebrospinal fluid within the ventricles are impeded or impaired. The acronym HSAS was coined because stenosis of the aqueduct of Sylvius (a narrow passageway linking the third and fourth ventricles) was originally thought to be the causative agent of…
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Wyburn-Mason syndrome
Wyburn-Mason syndrome, also known as Bonnet- Dechaume-BIanc syndrome, is a rare condition that is characterized by arteriovenous malformations (i.e., abnormal communication between the arteries and veins) in the central nervous system and the retina. These malformations take the form of arteriovenous aneurysms, which are widenings of the walls of an artery and a vein with…
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Wolf-Hirschhorn syndrome
Wolf-Hirschhorn syndrome is an extremely rare chromosomal disorder. It affects Chromosome 4, usually in the form of a partial deletion (absence of part of the short arm of Chromosome 4). The deletion of chromosomal material results in certain facial dysmorphic features and neurological manifestations. However, the amount of chromosomal material deleted varies from individual to…
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Winchester syndrome
Winchester syndrome is thought to be a rare form of the mucopolysaccharidoses, a group of inherited metabolic dis¬ orders that are caused by a deficiency of specific lysosomal enzymes. These enzymes are needed to break down the long chains of sugar molecules (mucopolysaccharides) used to build connective tissues and organs in the body. As with…
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Wilms tumor
Wilms tumor (also known as nephroblastoma) is a malignant renal tumor and is the second most common extracranial solid tumor in children. In 80-90% of the cases, it occurs in the renal blastoma tissue. It usually is characterized by an asymptomatic abdominal mass and abdominal swelling. Malignant neoplasm of the kidney, occurring in young children;…
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Wildervanck syndrome
Wildervanck syndrome, sometimes called cervico- oculoacoustic syndrome, is a very rare disorder almost exclusively affecting females. Currently, Wilderbank syndrome is thought to be the result of random genetic mutations. According to the National Organization for Rare Disorders (NORD, 2000a), it is comprised of a triad of particular conditions: congenital deafness (caused by a malformed bone…
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