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Lachiewicz–Sibley Syndrome
Lachiewicz–Sibley syndrome is a rare autosomal dominant disorder characterized by preauricular pits and renal disease. Persons with this disease may have hypoplasic kidneys or proteinuria. This disease was first described in a Caucasian family of British and Irish descent that emigrated to Ohio in the 19th century before settling in Nebraska. Many of the members of this family still live in Nebraska, although the relatives are now scattered throughout the country. Unlike branchio-oto-renal (BOR) syndrome, Lachiewicz–Sibley syndrome is characterized by only preauricular pitting and renal disease. Persons with BOR syndrome also present with hearing loss, branchial fistulas or cysts, malformed ears, and lacrimal stenosis. Other anomalies in BOR syndrome may include a long narrow face, a deep overbite, and facial paralysis. It was characterized in 1985. See also * Branchio-oto-renal syndrome Branchio-oto-renal syndrome (BOR) is an autosomal dominant genetic disorder involving t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or Heredity, inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Preauricular Sinus And Cyst
Preauricular sinuses and preauricular cysts are two common congenital malformations. Each involves the external ear. The difference between them is that a cyst does not connect with the skin, but a sinus does. Frequency of preauricular sinus differs depending the population: 0.1–0.9% in the US, 0.9% in the UK, and 4–10% in Asia and parts of Africa. Preauricular sinuses are inherited features, and frequently appear next to both ears. Preauricular sinuses can be associated with other defects that are not visible, one example being branchio-oto-renal syndrome. Presentation Complications Occasionally a preauricular sinus or cyst can become infected. Most preauricular sinuses are asymptomatic, and remain untreated unless they become infected too often. Preauricular sinuses can be excised surgically, but often present a high risk of recurrence. Causes Preauricular sinuses and cysts result from developmental defects of the first and second pharyngeal arches. This and other e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidneys
In humans, the kidneys are two reddish-brown bean-shaped blood-filtering organs that are a multilobar, multipapillary form of mammalian kidneys, usually without signs of external lobulation. They are located on the left and right in the retroperitoneal space, and in adult humans are about in length. They receive blood from the paired renal arteries; blood exits into the paired renal veins. Each kidney is attached to a ureter, a tube that carries excreted urine to the bladder. The kidney participates in the control of the volume of various body fluids, fluid osmolality, acid-base balance, various electrolyte concentrations, and removal of toxins. Filtration occurs in the glomerulus: one-fifth of the blood volume that enters the kidneys is filtered. Examples of substances reabsorbed are solute-free water, sodium, bicarbonate, glucose, and amino acids. Examples of substances secreted are hydrogen, ammonium, potassium and uric acid. The nephron is the structural and functi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Proteinuria
Proteinuria is the presence of excess proteins in the urine. In healthy persons, urine contains very little protein, less than 150 mg/day; an excess is suggestive of illness. Excess protein in the urine often causes the urine to become foamy (although this symptom may also be caused by other conditions). Severe proteinuria can cause nephrotic syndrome in which there is worsening swelling of the body. Signs and symptoms Proteinuria often causes no symptoms and it may only be discovered incidentally. Foamy urine is considered a cardinal sign of proteinuria, but only a third of people with foamy urine have proteinuria as the underlying cause. It may also be caused by bilirubin in the urine ( bilirubinuria), retrograde ejaculation, pneumaturia (air bubbles in the urine) due to a fistula, or drugs such as pyridium. Causes There are three main mechanisms to cause proteinuria: * Due to disease in the glomerulus * Because of increased quantity of proteins in serum (overflo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
White People
White is a Race (human categorization), racial classification of people generally used for those of predominantly Ethnic groups in Europe, European ancestry. It is also a Human skin color, skin color specifier, although the definition can vary depending on context, nationality, ethnicity and point of view. Description of populations as "White" in reference to their skin color is occasionally found in Greco-Roman ethnography and other ancient or medieval sources, but these societies did not have any notion of a White race or pan-European identity. The term "White race" or "White people", defined by their light skin among other physical characteristics, entered the major European languages in the later seventeenth century, when the concept of a "unified White" achieved greater acceptance in Europe, in the context of racialization, racialized slavery and social status in the European colonies. Scholarship on Race (human categorization), race distinguishes the modern concept from ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Branchio-oto-renal Syndrome
Branchio-oto-renal syndrome (BOR) is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. It is also known as Melnick-Fraser syndrome. Signs and symptoms The signs and symptoms of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant chronic kidney disease or kidney failure. Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear ( pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck. In some individuals and families, renal features are completely absent. The disease may then be termed "branchio-oto syndrome" (BO syndrome)., updated, 2015, Cause The cause of branchio-oto-renal syndrome are mutations in genes, EYA1, SIX1, and SIX5 (approxi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Narrow Face
Narrow face is a dysmorphic feature in which its width is abnormally reduced (upper and lower face width less than 2 SD below the mean subjectively, or apparent reduction of the width of the upper and lower face objectively). Syndromes (conditions) Narrow face is seen in the following conditions and syndromes: * 5p partial monosomy syndrome * Bloom syndrome * Branchiootorenal syndrome 1 * Cardiofaciocutaneous syndrome 4 * Christianson syndrome * Congenital disorder of glycosylation, type IIw * Congenital myasthenic syndrome 2A * Congenital myopathy 4A, autosomal dominant * Congenital myopathy 4B, autosomal recessive * Creatine transporter deficiency * Cutis laxa, X-linked * Ehlers-Danlos syndrome, Beasley-Cohen type * Granulocytopenia with immunoglobulin abnormality * Hereditary spastic paraplegia 23 and 51 * Intellectual disability, autosomal recessive 5 * Intellectual disability, X-linked 107, 58, and 61 * Knobloch syndrome * Marfan syndrome * Mitochondrial DNA depletion ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Branchio-oto-renal Syndrome
Branchio-oto-renal syndrome (BOR) is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. It is also known as Melnick-Fraser syndrome. Signs and symptoms The signs and symptoms of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant chronic kidney disease or kidney failure. Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear ( pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck. In some individuals and families, renal features are completely absent. The disease may then be termed "branchio-oto syndrome" (BO syndrome)., updated, 2015, Cause The cause of branchio-oto-renal syndrome are mutations in genes, EYA1, SIX1, and SIX5 (approxi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes Affecting The Kidneys
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
