The natural satellite of the planet Earth. It includes the lunar cycles or phases, the lunar month, lunar landscapes, geography, and soil.
A characteristic symptom complex.
The environment outside the earth or its atmosphere. The environment may refer to a closed cabin (such as a space shuttle or space station) or to space itself, the moon, or other planets.
The sixth planet in order from the sun. It is one of the five outer planets of the solar system. Its twelve natural satellites include Phoebe and Titan.
Devices, manned and unmanned, which are designed to be placed into an orbit about the Earth or into a trajectory to another celestial body. (NASA Thesaurus, 1988)
The fifth planet in order from the sun. It is one of the five outer planets of the solar system. Its sixteen natural satellites include Callisto, Europa, Ganymede, and Io.
The science concerned with celestial bodies and the observation and interpretation of the radiation received in the vicinity of the earth from the component parts of the universe (McGraw Hill Dictionary of Scientific and Technical Terms, 5th ed)
Creation and development of bodies within solar systems, includes study of early planetary geology.
The group of celestial bodies, including the EARTH, orbiting around and gravitationally bound by the sun. It includes eight planets, one minor planet, and 34 natural satellites, more than 1,000 observed comets, and thousands of lesser bodies known as MINOR PLANETS (asteroids) and METEOROIDS. (From Academic American Encyclopedia, 1983)
Substances that comprise all matter. Each element is made up of atoms that are identical in number of electrons and protons and in nuclear charge, but may differ in mass or number of neutrons.
The common orally transmitted traditions, myths, festivals, songs, superstitions, and stories of all peoples.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
Small solar system planetary bodies including asteroids. Most asteroids are found within the gap lying between the orbits of Mars and Jupiter.
Celestial bodies orbiting around the sun or other stars.
An order of mostly marine CRUSTACEA containing more than 5500 species in over 100 families. Like ISOPODA, the other large order in the superorder Peracarida, members are shrimp-like in appearance, have sessile compound eyes, and no carapace. But unlike Isopoda, they possess thoracic gills and their bodies are laterally compressed.
Aggregates of matter in outer space, such as stars, planets, comets, etc. and the properties and processes they undergo.

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. (1/15)

McKusick-Kaufman syndrome (MKKS) is a rare, recessively inherited syndrome reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. Bardet-Biedl syndrome (BBS) is the generic name for a genetically heterogeneous group of autosomal recessive disorders characterised by retinal dystrophy or retinitis pigmentosa (appearing usually between 10 and 20 years of age), postaxial polydactyly, obesity, nephropathy, and mental disturbances, or, occasionally, mental retardation. Typically, MKKS is diagnosed (and reported) in very young children, whereas the diagnosis of BBS often is delayed to the teenage years. We report here a series of nine patients diagnosed in infancy with MKKS because of the presence of vaginal atresia and postaxial polydactyly, who later developed obesity and retinal dystrophy, thus turning out to be instances of BBS. The overlap of BBS and MKKS is a real diagnostic pitfall and its importance has to be stressed, for genetic counselling, for clinical management and follow up, and for molecular approaches. The diagnosis of MKKS should be considered with caution in all published cases described exclusively in the neonatal period and in those with mental retardation. We strongly recommend all children seen in infancy with a diagnosis of MKKS to be re-evaluated for RP and other signs of BBS.  (+info)

Quadriparesis in the Laurence-Moon-Biedl-Bardet syndrome: case report. (2/15)

A 36 year old patient known to suffer from the Laurence-Moon-Biedl-Bardet syndrome (LMBBS) developed spastic quadriparesis. The typical features of the syndrome, presented by this patient were polydactyly, obesity, hypogonadism, retinitis pigmentosa and relative mental retardation. Severe spinal cervical and lumbar canal stenosis imaged by plain X-rays and computerised tomography was found. Magnetic resonance imaging showed significant atrophy of the spinal cord, indicating that the cause of the quadriparesis was cervical myelopathy. The patient underwent laminoplasty with some improvement.  (+info)

Chronic renal failure; an important feature of the Laurence-Moon-Biedl syndrome. (3/15)

Two cases of end stage renal failure occurring in association with the Laurence-Moon-Biedl syndrome are reported. Abnormalities in renal function and morphology are increasingly recognized in these patients in whom uraemia is an important cause of morbidity and early mortality. The presence of renal impairment, occurring as frequently as any of the pentad of features that characterize the syndrome, has important implications for the prognosis and long term management of these patients.  (+info)

Glomerulonephropathy of Laurence-Moon-Biedl syndrome. (4/15)

A patient with Laurence-Moon-Biedl syndrome and nephrotic range proteinuria is presented. Radiological investigation of the urinary tract revealed clubbed calyces but no evidence of obstruction or vesicoureteric reflux. Renal biopsy revealed occasional sclerotic glomeruli, extensive foot-process fusion and segmental glomerular basement membrane abnormalities with negative immunofluorescence for immunoglobulins and complement. Nephrotic proteinuria responded to steroid therapy but mild proteinuria persisted. The findings were consistent with minimal change nephropathy superimposed on the glomerular lesions of Lawrence-Moon-Biedl syndrome.  (+info)

Histopathology of mitochondrial cytopathy and the Laurence-Moon-Biedl syndrome. (5/15)

Clinical and histopathological studies of two patients with distinctly different inherited juvenile retinal dystrophies indicate that the ocular defect in mitochondrial cytopathy involves the underlying pigment epithelium, whereas in the Laurence-Moon-Biedl syndrome the photoreceptor cells are primarily affected.  (+info)

Heritable fragile sites on human chromosomes II. Distribution, phenotypic effects, and cytogenetics. (6/15)

Individuals and families have been documented in which there are a number of fragile sites on chromosomes. These include sites at 2q11, 10q23, 11q13, 16p124, 16q22, 20p11, and Xq27 or 28. Fragile sites reported in the literature are compiled. The cytogenetics of the sites is discussed. The phenotypic effects of the sites are considered, and it is speculated that homozygosity of the autosomal sites might be deleterious as is hemizygosity of the site on Xq. These sites are used in the previous report which documents the effect of tissue medium components on their expression.  (+info)

Differentiation of glomerular, tubular, and normal proteinuria: determinations of urinary excretion of beta-2-macroglobulin, albumin, and total protein. (7/15)

A low molecular weight beta(2)-globulin (beta(2)-microglobulin), albumin, and total protein were measured in concentrated 24-hr urine specimens from 20 healthy subjects and 30 patients with clinical proteinuria of glomerular or tubular type. Classification of proteinuria was made on the basis of clinical diagnosis and size distribution of urinary proteins after gel chromatography. The molecular radii (Stokes' radii) of beta(2)-microglobulin and albumin, estimated by gel chromatography, were 15 A and 35 A. The average 24-hr urinary excretion in healthy subjects was 0.12 mg for beta(2)-microglobulin, 10 mg for albumin, and 80 mg for total protein. The patients with renal glomerular disorders had normal or only somewhat increased excretion of beta(2)-microglobulin, despite considerably increased excretion of albumin and total protein. Most of the patients with tubular dysfunction excreted large amounts of beta(2)-microglobulin, although they excreted normal or only slightly increased amounts of albumin and only moderately increased quantities of total protein. Consequently, the ratio or urinary albumin/urinary beta(2)-microglobulin was high in glomerular proteinuria (1100: 14,200), intermediate in normal proteinuria (33: 163), and low in tubular proteinuria (1.0: 13.3). Determinations of urinary clearances of beta(2)-microglobulin and albumin in four healthy subjects and 11 patients indicated that increased excretions of the two proteins were associated with increased clearances. The results suggest that quantitative determinations of urinary beta(2)-microglobulin and urinary albumin may be useful for detecting disorders of the renal handling of plasma proteins. The findings also seem to suggest a selective tubular reabsorption of the two proteins. Estimates on sera revealed a close correlation between serum levels of beta(2)-microglobulin and creatinine and also a greatly raised serum concentration of beta(2)-microglobulin after bilateral nephrectomy.  (+info)

Renal histopathological changes in a child with Laurence-Moon-Biedl syndrome. (8/15)

This report describes a case of Laurence-Moon-Biedl syndrome identified in a 24-month-old boy. Significant renal involvement was present with right-sided vesicoureteral reflux, cystocele, urinary tract infections, and growth arrest of the right kidney. After the development of hypertension a left renal biopsy was performed to determine if bilateral renal disease was present. Histopathological and ultrastructural changes in the left kidney are described. These changes appear to be unrelated to pyelonephritis or hypertension and to be most consistent with the nephropathy of Laurence-Moon-Biedl syndrome.  (+info)

I'm sorry for any confusion, but "Moon" is not a commonly used medical term. The moon is a natural satellite that orbits around the Earth and is not related to medical terminology or anatomy. If you have any questions about medical definitions or topics, I would be happy to help!

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

The term "extraterrestrial environment" is not typically used in a medical context, but rather in the fields of astronomy and astrobiology. It generally refers to any physical environment outside of Earth, including the surfaces and atmospheres of other planets, moons, asteroids, comets, and interstellar space.

In a broader sense, one might use the term "extraterrestrial environment" to refer to any physical conditions that are not found naturally on Earth, such as extreme temperatures, radiation levels, or atmospheric compositions. However, this is not a standard medical definition.

It's worth noting that there may be potential health implications for humans who travel to extraterrestrial environments, as they would be exposed to new and potentially hazardous conditions. As such, space medicine is a growing field of research that aims to understand and mitigate the health risks associated with space travel.

I'm sorry for any confusion, but the term "Saturn" is not a medical term. In general, it refers to the sixth planet from the sun in our solar system. If you have any medical concerns or questions, I would be happy to try and help answer those for you.

I'm sorry for any confusion, but "spacecraft" is not a term typically used in medical definitions. A spacecraft is a vehicle or machine designed to fly in outer space. It may be used to transport humans or cargo to and from space stations, conduct scientific research, or explore other celestial bodies such as the moon, planets, and asteroids. If you have any questions related to medical terminology, I'd be happy to help!

I'm sorry for any confusion, but "Jupiter" is not a medical term. Jupiter is the largest planet in our solar system, known for its Great Red Spot, a storm that has been raging on the planet for at least 300 years. If you have any medical concerns or questions, I'd be happy to help answer those!

Astronomy is not a medical term, but rather it is a branch of science that deals with the study of celestial objects, phenomena, and processes outside the Earth's atmosphere. It involves observing stars, planets, galaxies, and other cosmic entities, and using physical laws to understand their properties and behavior.

Therefore, there is no medical definition for astronomy. However, it is worth noting that some areas of astronomy may have applications in medicine, such as the use of medical imaging techniques that were developed based on principles used in radio astronomy.

Planetary evolution is a field of study that focuses on the processes that have shaped the formation, development, and changes of planets and other celestial bodies over time. This encompasses various scientific disciplines, including astronomy, astrobiology, geology, and atmospheric science. The study of planetary evolution helps scientists understand how planets form, how they change over time, and the conditions that allow for the development of life.

The process of planetary evolution can be driven by a variety of factors, including:

1. Formation: Planets form from a protoplanetary disk, a rotating disk of gas and dust surrounding a young star. Over time, solid particles in the disk collide and stick together to form larger and larger bodies, eventually leading to the formation of planets.
2. Internal differentiation: As planets grow, their interiors differentiate into layers based on density, with heavier materials sinking towards the center and lighter materials rising towards the surface. This process can lead to the formation of a core, mantle, and crust.
3. Geological activity: Planetary evolution is also influenced by geological processes such as volcanism, tectonics, and erosion. These processes can shape the planet's surface, create mountain ranges, and carve out valleys and basins.
4. Atmospheric evolution: The evolution of a planet's atmosphere is closely tied to its geological activity and the presence of volatiles (gases that easily vaporize). Over time, the composition of a planet's atmosphere can change due to processes such as outgassing from the interior, chemical reactions, and interactions with the solar wind.
5. Climate evolution: The climate of a planet can also evolve over time due to changes in its orbit, axial tilt, and atmospheric composition. These factors can influence the amount of sunlight a planet receives and the greenhouse effect, which can lead to global warming or cooling.
6. Impact events: Collisions with other celestial bodies, such as asteroids and comets, can significantly impact a planet's evolution by causing large-scale changes to its surface and atmosphere.
7. Life: On planets where life emerges, biological processes can also play a role in shaping the planet's environment and influencing its evolution. For example, photosynthetic organisms can produce oxygen, which can alter the composition of a planet's atmosphere.

Understanding the various factors that contribute to a planet's evolution is crucial for understanding the formation and development of planetary systems and searching for potentially habitable exoplanets.

I'm sorry for any confusion, but "Solar System" is not a medical term. It refers to the astronomical system that includes our star, the Sun, and the objects that orbit it, such as planets, dwarf planets, asteroids, comets, and meteoroids. The Solar System is located in the Milky Way galaxy. If you have any medical terms or concepts you would like me to define or explain, I'd be happy to help!

In the context of medicine, the term "elements" generally refers to the basic constituents or parts that make up a whole. These can include chemical elements, such as carbon, hydrogen, and oxygen, which are the building blocks of biological molecules like proteins, lipids, and carbohydrates.

However, "elements" can also refer more broadly to the fundamental components of a system or process. For example, in traditional humorism, one of the ancient medical systems, the four "elements" were considered to be black bile, yellow bile, phlegm, and blood, which were believed to correspond to different temperaments and bodily functions.

In modern medicine, the term is less commonly used, but it may still refer to the basic components of a biological or chemical system, such as the elements of a chemical reaction or the building blocks of a cell.

I'm afraid there seems to be a misunderstanding. Folklore is not a medical term and does not have a medical definition. It refers to the traditional customs, tales, sayings, dances, or art forms that are passed down from generation to generation within a culture or community. If you have any questions related to medical terminology or health-related topics, I'd be happy to help!

Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is characterized by intellectual and developmental disabilities, distinctive facial features, and sometimes physical growth delays and health problems. The condition affects approximately one in every 700 babies born in the United States.

Individuals with Down syndrome have varying degrees of cognitive impairment, ranging from mild to moderate or severe. They may also have delayed development, including late walking and talking, and may require additional support and education services throughout their lives.

People with Down syndrome are at increased risk for certain health conditions, such as congenital heart defects, respiratory infections, hearing loss, vision problems, gastrointestinal issues, and thyroid disorders. However, many individuals with Down syndrome live healthy and fulfilling lives with appropriate medical care and support.

The condition is named after John Langdon Down, an English physician who first described the syndrome in 1866.

Metabolic syndrome, also known as Syndrome X, is a cluster of conditions that increase the risk of heart disease, stroke, and diabetes. It is not a single disease but a group of risk factors that often co-occur. According to the American Heart Association and the National Heart, Lung, and Blood Institute, a person has metabolic syndrome if they have any three of the following five conditions:

1. Abdominal obesity (waist circumference of 40 inches or more in men, and 35 inches or more in women)
2. Triglyceride level of 150 milligrams per deciliter of blood (mg/dL) or greater
3. HDL cholesterol level of less than 40 mg/dL in men or less than 50 mg/dL in women
4. Systolic blood pressure of 130 millimeters of mercury (mmHg) or greater, or diastolic blood pressure of 85 mmHg or greater
5. Fasting glucose level of 100 mg/dL or greater

Metabolic syndrome is thought to be caused by a combination of genetic and lifestyle factors, such as physical inactivity and a diet high in refined carbohydrates and unhealthy fats. Treatment typically involves making lifestyle changes, such as eating a healthy diet, getting regular exercise, and losing weight if necessary. In some cases, medication may also be needed to manage individual components of the syndrome, such as high blood pressure or high cholesterol.

I'm sorry for any confusion, but the term "minor planets" is not typically used in medical definitions. It is a term from astronomy that refers to small celestial bodies orbiting the Sun, which are smaller than planets and dwarf planets. They are also commonly known as asteroids. If you have any questions related to medical terminology or health concerns, I would be happy to help with those instead!

I'm sorry for any confusion, but "planets" is not a medical term. It is a term used in astronomy to refer to celestial bodies that orbit the sun and meet certain criteria, such as having cleared their orbit of other debris. If you have any questions about medical terminology or concepts, I'd be happy to try to help!

Amphipoda is an order of crustaceans characterized by a laterally compressed body and a distinctive jointed swimming leg, making them well-adapted for swimming in open water. They are commonly known as "sand fleas" or "beach fleas," although they are not actually fleas. Amphipods can be found in various aquatic habitats, including marine, freshwater, and brackish environments. Some species live on the seafloor, while others are planktonic or associate with other organisms. They vary greatly in size, ranging from less than a millimeter to over 30 centimeters in length.

The medical definition of 'Amphipoda' is not typically used since amphipods do not have direct relevance to human health or medicine. However, they can serve as bioindicators of environmental quality and may be involved in the transmission of certain diseases between aquatic organisms.

Astronomical phenomena are observable events that occur in the universe beyond our planet Earth. These can include a wide range of occurrences such as:

1. The movement and positions of celestial bodies like stars, planets, asteroids, comets, and galaxies.
2. Changes in the brightness or appearance of celestial objects, such as eclipses, transits, novae, and supernovae.
3. Phenomena related to the life cycles of stars, like stellar evolution, neutron star formation, black hole creation, etc.
4. Natural phenomena that occur in the interstellar medium or intergalactic space, such as nebulae, pulsars, quasars, and active galactic nuclei.
5. Gravitational effects on light, such as gravitational lensing and gravitational waves.
6. Phenomena related to the structure and evolution of the universe, like cosmic microwave background radiation and dark matter.

These phenomena are studied by astronomers using various observational techniques and instruments, including telescopes that detect different parts of the electromagnetic spectrum, as well as space-based observatories and astrophysical experiments.

LMS has also been referred to as Laurence-Moon-Bardet-Biedl or Laurence-Moon-Biedl-Bardet syndrome, but Bardet-Biedl syndrome ( ... Farag, T. I.; Teebi, A. H. W. S. (Feb 1988). "Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population". Clinical ... "Laurence-Moon Syndrome , Doctor , Patient". Patient. 24 February 2015. Retrieved 13 December 2016. synd/3746 at Who Named It? ... Laurence-Moon syndrome (LMS) is a rare autosomal recessive genetic disorder associated with retinitis pigmentosa, spastic ...
Laurence-Moon-Biedl-Bardet syndrome is no longer considered as valid terms in that patients of Laurence and Moon had paraplegia ... The syndrome is named after Georges Bardet and Arthur Biedl.[why?] The first known case was reported by Laurence and Moon in ... Laurence-Moon syndrome is usually considered a separate entity. However, some recent research suggests that the two conditions ... Syndromes affecting the kidneys, Syndromes affecting the retina, Syndromes with obesity, Syndromes affecting the nervous system ...
This disease would become known as the Laurence-Moon syndrome, named along with his colleague Robert Charles Moon. Laurence was ... eponymous Laurence-Moon-Biedl syndrome. "The Sensibility of the Eye to Colour", 1861. The diagnosis of Surgical Cancer (which ... Sorsby A. John Zachariah Laurence- a belated tribute. Brit J Ophthalm 1932;16(11):727-40. Pearce JMS. John Zachariah Laurence ... John Zachariah Laurence (1829 - 18 July 1870) was an English ophthalmologist who practiced medicine in London. He was the ...
... a facility founded in 1857 by John Zachariah Laurence (1829-1870). Along with Dr. Laurence, the "Laurence-Moon syndrome" is ... He was the son of William Moon (1818-1894), inventor of "Moon type", an embossed alphabet for the blind. Robert Moon's career ... Moon is interred at West Laurel Hill Cemetery, Providence Section, Lot 622, Bala Cynwyd, Pennsylvania. Robert Charles Moon @ ... In 1879 Moon emigrated to the United States, where he settled into an ophthalmological practice in Philadelphia. Following ...
The cause of death in Laurence-Moon-Bardet-Biedl syndrome. ''Acta Ophthalmologica Scandinavica, Supplement''. 219:45-47 DOI: ... most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. ''Nature Genetics''. 31 (4):435-438. doi: ... Bardet-Biedl Syndrome is an autosomal recessive disorder that occurs in about 1 in every 100,000 live births and is due to ... Bardet-Biedl Syndrome has also been related to hypertension and other cardiovascular complications. BBSome dysfunction has been ...
... and Robert Charles Moon (1845-1914). Today this disease has been shortened to become the Laurence-Moon syndrome, while the ... "Laurence-Moon-Bardet-Biedl syndrome", together with two English physicians, John Zachariah Laurence (1829-1870) ... This syndrome is now called the Bardet-Biedl syndrome after the two men. A similar disease was originally named the " ... Laurence & Moon; Research on retinitis pigmentosa [1] A history of farm animal embryo transfer and some associated techniques ...
Robert Charles Moon Laurence-Moon-Bardet-Biedl syndrome (a.k.a. Laurence-Moon-Biedl-Bardet syndrome, a.k.a. Laurence-Moon-Biedl ... Laurence-Moon-Bardet-Biedl syndrome, in which findings in the patients of Laurence and Moon were later found to differ from ... Guido Banti Bárány syndrome - Robert Bárány Bardet-Biedl syndrome (formerly, a.k.a. Laurence-Moon-Bardet-Biedl syndrome, but ... Gonzalo Rodriguez Lafora Laron syndrome - Zvi Laron Laurence-Moon syndrome - John Zachariah Laurence, ...
... laurence-moon syndrome MeSH C10.228.140.617.738 - pituitary diseases MeSH C10.228.140.617.738.200 - empty sella syndrome MeSH ... cri-du-chat syndrome MeSH C10.597.606.643.210 - de lange syndrome MeSH C10.597.606.643.220 - down syndrome MeSH C10.597.606.643 ... melas syndrome MeSH C10.228.140.163.100.540 - menkes kinky hair syndrome MeSH C10.228.140.163.100.545 - merrf syndrome MeSH ... guillain-barre syndrome MeSH C10.668.829.350.500 - miller fisher syndrome MeSH C10.668.829.425 - isaacs syndrome MeSH C10.668. ...
Laurence-Moon-Biedl syndrome Prader-Willi syndrome Acquired Causes Benign tumors and cysts Craniopharyngiomas Germinomas, ... Of note, the X-linked form of Kallmann syndrome (KS) form of GnRH insensitivity relating to mutations in the ANOS1 gene has the ... A population-based, epidemiological study from Finland showed a minimal prevalence estimate of the Kallman syndrome (KS) form ... Congenital Causes Genetic Mutations Kallmann syndrome ANOS1 (formerly KAL1), X-linked recessive KS SOX10 (SRY-box 10 gene), ...
Laurence-Moon syndrome MeSH C16.131.077.525 - Leopard syndrome MeSH C16.131.077.550 - Marfan syndrome MeSH C16.131.077.578 - ... MeSH C16.131.077.065 - Alagille syndrome MeSH C16.131.077.095 - Angelman syndrome MeSH C16.131.077.112 - Bardet-Biedl syndrome ... branchio-oto-renal syndrome MeSH C16.131.260.190 - cri du chat syndrome MeSH C16.131.260.210 - De Lange syndrome MeSH C16.131. ... branchio-oto-renal syndrome MeSH C16.320.180.190 - cri du chat syndrome MeSH C16.320.180.210 - De Lange syndrome MeSH C16.320. ...
Laurence-Prosser-Rocker syndrome Laurence-Moon-Bardet-Biedl syndrome Laurin-Sandrow syndrome Laxova-Brown-Hogan syndrome LBWC ... syndrome Long QT Syndrome Long QT syndrome type 1 Long QT syndrome type 2 Long QT syndrome type 3 Loose anagen hair syndrome ... syndrome Lowry syndrome Lowry-Wood syndrome Lowry-Yong syndrome LSA L-transposition and ccTGA Lubani Al Saleh Teebi syndrome ... syndrome Lopes-Gorlin syndrome Lopes-Marques de Faria syndrome Lopez-Hernandez syndrome Lou Gehrig's disease Louis-Bar syndrome ...
... a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, ... Syndromes with obesity, Syndromes with sensorineural hearing loss, Syndromes affecting the retina, Syndromes including diabetes ... Prevention for Alström syndrome is considered to be harder compared to other diseases/syndromes because it is an inherited ... Alström syndrome (AS), also called Alström-Hallgren syndrome, is a very rare autosomal recessive genetic disorder characterised ...
... syndrome Laurence-Moon syndrome Lavender foal syndrome Lavender Town Lawrence-Seip syndrome Lazarus syndrome Leaky gut syndrome ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...
"Usher Syndrome". "Diseases - MM - Types Of Overview". Muscular Dystrophy Association. 2015-12-18. "Bardet-Biedl (Laurence Moon ... Alport's syndrome is associated with RP and an abnormal glomerular-basement membrane leading to nephrotic syndrome. It is ... A mutation on the USH2A gene is known to cause 10-15% of a syndromic form of RP known as Usher's Syndrome when inherited in an ... Xiong, Wenjun; MacColl Garfinkel, Alexandra E.; Li, Yiqing; Benowitz, Larry I.; Cepko, Constance L. (1 April 2015). "NRF2 ...
Ernest Lawrence, American physicist - lawrencium. Lazarus of Bethany, Biblical character - Lazarus sign, Lazarus syndrome, ... A. C. Larrieu, French moon observer - Larrieu's dam (a clair-obscur effect on the moon's surface during local sunset conditions ... Saint Lawrence of Rome, Italian Christian saint - Saint Lawrence River, San Lawrenz, and numerous other localities, churches ... Baron Munchausen, German baron - Munchausen syndrome, Munchausen syndrome by proxy Hugo Münsterberg, German-American ...
Moon Lake (2010) Return of the Dapper Men (2010) Syndrome (2010) Lucid: A Matthew Dee Adventure (2011) Mr. Murder Is Dead" ( ... The First Death of Laurie Strode (2008) Rest (2008) Spooks (2008) Golden Age Sheena: The Best of the Queen of the Jungle Volume ...
E.J. remembers Lawrence's words: "Kid, you got us off the Moon. Without you we'd be part of those rocks and rilles down there ... E.J. notices that Pelham is ill, but the astronaut insists that it is just space adaptation syndrome and asks E.J. to say ... Stowaway to the Moon is a 1975 television film directed by Andrew V. McLaglen and starring Lloyd Bridges among others. The plot ... The film also features Pete Conrad, the third person to walk on the Moon. The film was based on the novel of the same name, ...
Larry Flynt, Valmont, and the 1999 biopic Man on the Moon. He played Mr. Vargas, the biology teacher, in the 1982 comedy Fast ... Described as an "instantly recognizable sad-faced actor", he was diagnosed with Marfan syndrome in childhood. Schiavelli gained ... Larry Flynt (1996), Dr. Kaufman in Tomorrow Never Dies (1997) and ABC executive Maynard Smith in Man on the Moon (1999). ... People with Marfan syndrome, 20th-century American male actors, 21st-century American male actors, People from Polizzi Generosa ...
... syndrome Jacobsen syndrome Katz syndrome Klinefelter syndrome Kabuki syndrome Kyphosis Larsen syndrome Laurence-Moon syndrome ... syndrome Bardet-Biedl syndrome Barth syndrome Basal-cell nevus syndrome Beckwith-Wiedemann syndrome Benjamin syndrome Bladder ... syndrome Proteus syndrome Prune belly syndrome Radial aplasia Rett syndrome Robinow syndrome Rubinstein-Taybi syndrome Saethre- ... Triple-X syndrome Trisomy 13 Trisomy 9 Turner syndrome Umbilical hernia Usher syndrome Waardenburg syndrome Werner syndrome ...
Moon, RE; Piantadosi, CA; Camporesi, EM (2007); Dr. Peter Bennett Symposium Proceedings. Contents: Foreword - Drs. Moon, ... Dear, GdeL; Vann, RD; Pieper, CF; Bute, BP; Uguccioni, DM; Thalmann, ED (1997); DCI symptoms do not appear to form syndromes. ... Walker, D; Lippmann, J; Lawrence, CL; Fock, A; Wodak, T; Jamieson, S (2010); Provisional report on diving-related fatalities in ... Richard Moon; An Historical Overview of Recreational Scuba Diving - Dr. Frans Cronje; From Rec to Tec: The Future of Technical ...
Alfred Hitchcock collections, Lawrence of Arabia and The Bridge on the River Kwai by David Lean, Taxi Driver, Raging Bull and ... Afternoon Murder on the Orient Express Network Prince of the City Peter Bogdanovich Targets The Last Picture Show Paper Moon ... Mel Brooks The Producers Robert Wise The Andromeda Strain Jeannot Szwarc Somewhere in Time James Bridges The China Syndrome Joe ... "Lawrence of Arabia". www.thedigitalbits.com. 14 November 2012. Retrieved 9 November 2015. "The Bridge on the River Kwai (Blu- ...
"Man in the Moon") due to fat deposits on the sides of the face. Moon face is often associated with Cushing's syndrome or ... Fardet, Laurence; Cabane, Jean; Lebbé, Céleste; Morel, Patrice; Flahault, Antoine (October 2007). "Incidence and risk factors ... Cessation of steroid therapy or treatment of the cause of Cushing's syndrome causes moon face to slowly decrease and eventually ... such as moon face, was the most frequent adverse event, experienced by 63% of patients. The risk for moon face increases with ...
In Larry Niven's 1967 short story "The Jigsaw Man", immortality is achieved by organ transplants, but there is a chronic ... Rosen, S. L. (1996). "Alienation as the Price of Immortality: The Tithonus Syndrome in Science Fiction and Fantasy". In Slusser ... doi:10.1007/978-3-319-91433-6_3. ISBN 978-3-319-91433-6. Determann, Jörg Matthias (2020). "Trips to the Moon". Islam, Science ... Dooley, Linda Rinker (1985). "Larry Niven: Immortality and Unstable Equilibrium". In Yoke, Carl B.; Hassler, Donald M. (eds.). ...
Larry Coryell, The Lion and the Ram (Arista, 1976) Larry Coryell, Tributaries (Novus Arista, 1979) Hank Crawford, Wildflower ( ... 2 (NYC, 1994) With Jimmy Scott Mood Indigo (Grooveland, 2000) But Beautiful (Milestone, 2002) Moon Glow (Milestone, 2003) With ... Don Sebesky Don Sebesky & the Jazz Rock Syndrome (Verve, 1968) The Rape of El Morro (CTI, 1975) Three Works for Jazz Soloists ... Larry Coryell, John Abercrombie, Tom Scott, Jeremy Steig, and Gábor Szabó. In mid-life Beck spent less time playing and worked ...
Lee, Ji Hyun; Kim, Ye An; Moon, Joon Ho; Min, Se Hee; Song, Young Shin; Choi, Sung Hee (November 2016). "Expressive aphasia as ... "Specific Syndromes: The Nonfluent Aphasias". Neuropathologies of Language and Cognition. Archived from the original on 2006-04- ... cite book}}: ,work= ignored (help) Bates, Elizabeth A.; Friederici, Angela D.; Wulfeck, Beverly B.; Juarez, Larry A. (1988-03- ... Darnell, Robert; Darnell, Robert B.; Posner, Jerome B. (2011-08-22). Paraneoplastic Syndromes. Oxford University Press, USA. ...
Emeritus Professor Laurence Hergenhan (1931-2019) In memoriam: Ben Johnston (1926-2019) Mark Kleiman, who changed the way we ... Valentina Cortese, 96, Italian actress (Malaya, Brother Sun, Sister Moon, Day for Night). Lutz Fleischer, 63, German painter ... Barry Coe, 84, American actor (Jaws 2, Peyton Place, Bonanza), myelodysplastic syndrome. Raja Dhale, 78, Indian writer and anti ... Laurie Hergenhan, 88, Australian literary scholar. Ben Johnston, 93, American microtonal composer. Mark Kleiman, 68, American ...
Harlem Moon Publishers. p 13. Wiseman, Rosalind (9 December 2011). "Girls' Cliques: What Role Does Your Daughter Play?". ... Elitism Mean girl Narcissism Sociopathy Queen bee syndrome Spoiled child "Article". Timesonline.co.uk. Archived from the ... Lawrence Erlbaum Associates Dickinson, Amy (13 May 2002). "Taming the Teen Queen Bee". Time. Archived from the original on ... Retrieved 2014-02-23.(subscription required) Cooper, Virginia W. (1997). "Homophily or the Queen Bee Syndrome: Female ...
In 2008 he was executive producer of the film Front of the Class, based on the true story of a person with Tourette syndrome. ... "Movie Review A SMILE AS BIG AS THE MOON". Movie Guide. Emmy. Academy of Television Arts & Sciences. 2003. "Cuba Gooding Jr. to ... Brent has worked with such noted artists as Kathy Bates, Cuba Gooding Jr., Anna Paquin, Laurence Fishburne, Diane Lane, Jessica ... His credits include The Makeover (an update of George Bernard Shaw's Pygmalion), A Smile as Big as the Moon, Firelight, Brush ...
Miles, Larry (1997). "Deathline International: Wild Boys + Arashi Syndrome" (PDF). Black Monday (6): 1. Retrieved August 27, ... Bernie Moon - drums (11) Mike Welch - guitar (3, 4, 5, 8), vocals (3, 8, 9) Production and design Stefan Noltemeyer - mastering ... Christian, Chris (July 1997). "Deathline International: Arashi Syndrome". Sonic Boom. 5 (6). Retrieved August 27, 2020. Haslett ...
Lawrence, Jill. "School of Stars: Judd Apatow, Elaine Chao, Michael Isikoff, W.Va. First Lady?". Politics Daily. Archived from ... Brown, R. (August 4, 2004). "Size of the Moon". Time Out, London, 51(78). Baird, Abigail A.; Kagan, Jerome; Gaudette, Thomas; ... Izadi, Elahe (May 28, 2015). "At Harvard, Natalie Portman acknowledges what many of us feel: Impostor syndrome". The Washington ...
LMS has also been referred to as Laurence-Moon-Bardet-Biedl or Laurence-Moon-Biedl-Bardet syndrome, but Bardet-Biedl syndrome ( ... Farag, T. I.; Teebi, A. H. W. S. (Feb 1988). "Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population". Clinical ... "Laurence-Moon Syndrome , Doctor , Patient". Patient. 24 February 2015. Retrieved 13 December 2016. synd/3746 at Who Named It? ... Laurence-Moon syndrome (LMS) is a rare autosomal recessive genetic disorder associated with retinitis pigmentosa, spastic ...
Congenital renal abnormalities in the Laurence-Moon-Biedl syndrome. Message subject: (Your Name) has forwarded a page to you ...
Speech, language, and hearing problems in the Laurence-Moon-Biedl syndrome.. D. C. Garstecki*, T. E. Borton, E. W. Stark, B. T ... Speech, language, and hearing problems in the Laurence-Moon-Biedl syndrome. In: The Journal of speech and hearing disorders. ... Speech, language, and hearing problems in the Laurence-Moon-Biedl syndrome. / Garstecki, D. C.; Borton, T. E.; Stark, E. W. et ... Speech, language, and hearing problems in the Laurence-Moon-Biedl syndrome. The Journal of speech and hearing disorders. 1972 ...
"Laurence-Moon-Bardet-Biedl syndrome," this is now differentiated as "Laurence-Moon syndrome" or "Biedl-Bardet syndrome," both ... Resources for Families of Children with Laurence-Moon Syndrome. *What Is Laurence-Moon-Bardet-Biedl Syndrome? by VeryWell ... Are There Treatments for Laurence-Moon Syndrome?. There is currently no cure for Laurence-Moon syndrome; however, surgeries, ... How Is Laurence-Moon Syndrome Diagnosed?. As several characteristics of Laurence-Moon are identified, a team of medical ...
Carpenter syndrome. *Ellis-van Creveld syndrome (chondroectodermal dysplasia). *Familial polydactyly. *Laurence-Moon-Biedl ...
Mork NJ, Rajka G, Halse J. Treatment of acanthosis nigricans with etretinate (Tigason) in a patient with Lawrence-Seip syndrome ... Berardinelli-Seip syndrome), lamin A/C (Dunnigan syndrome), and Alstrom syndrome gene. Fibroblast growth factor defects include ... and acanthosis nigricans syndrome (HAIR-AN syndrome). This syndrome is often familial, affecting primarily young women ( ... acanthosis nigricans has been associated with numerous syndromes (see the Table in Pathophysiology). The type A syndrome and ...
... velocardiofacial syndrome or shprintzen syndrome. (3) A case of laryngeal web with polydactyly associated with Laurence Moon ... Ear nose and Throat manifestations in Laurence-Moon-Biedl-Bardet syndrome. Ind J Otolaryngol Head Neck Surg 1997; 1: 61-62. ... A new recessive syndrome with VATER- like defects, pulmonary hypertension, abnormal ears, blue sclera, laryngeal webs and ... Agarwal M, Sharma R, Panda A, Gupta A. Laryngeal web associated with simpson-Golabi-Behmel syndrome in a child. Anaesthes ...
... and the Laurence-Moon Biedl, Alstrom, and Cushing syndromes, also typically produce hypogonadism. Normal gonadal function is ... Androgen Insensitivity Syndrome , Androgen insensitivity syndrome Definition Androgen insensitivity syndrome is a genetic ... XYY syndrome has an incidence of one in 1,000 newborn males. However, since many males with XYY syndrome look like other males ... Turners syndrome. Turners syndrome is a genetic disorder caused by a missing X chromosome that occurs only in females. Women ...
Alström syndrome (AS) is characterised by metabolic deficits, retinal dystrophy, sensorineural hearing loss, dilated ... a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, ... Differential effects on beta-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes. Hum Mol Genet 25:57-68 ... Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl syndrome and Alstrom syndrome provides mechanistic ...
English Translation for whistling face syndrome - dict.cc German-English Dictionary ... Laurence-Moon-Bardet-Biedl syndrome ,LMBBS, LMBB syndrome,. Laurence-Moon-Biedl-Bardet-Syndrom {n}. ,LMBBS, LMBB-Syndrom, ... syndrome]. Freeman-Sheldon-Syndrom {n}. [Whistling-face-Syndrom]. med.. whistling face (syndrome) [Freeman-Sheldon. syndrome]. ... syndrome]. ,AINS, AIN syndrome,. Nervus-interosseus-anterior-Syndrom {n}. med.. Cauchois-Eppinger-Frugoni syndrome ,CEF ...
Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome. Kamme, C., Mayer, A. K., Strom, T. M., ... Ataxia-pancytopenia syndrome with SAMD9L mutations. Gorcenco, S., Komulainen-Ebrahim, J., Nordborg, K., Suo-Palosaari, M., ... Alteration of rod and cone function in children with Usher syndrome.. Malm, E., Ponjavic, V., Möller, C., Kimberling, W. J., ... Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene. Kjellström, U., Martell, S., ...
Very rare genetic disorders, including Froehlich syndrome in boys, Laurence-Moon-Biedl syndrome, and Prader-Willi syndrome, ... Metabolic Syndrome Metabolic syndrome (also called syndrome X) is a cluster of conditions that is significantly associated with ... It results in obesity, a moon-shaped face, and muscle wasting. *Obesity is also linked to polycystic ovarian syndrome, a ... Night-eating syndrome is when people have no appetite in the morning, stay awake at night (have insomnia), and consume more ...
This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8) ... "Bardet-Biedl Syndrome" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical ... This graph shows the total number of publications written about "Bardet-Biedl Syndrome" by people in this website by year, and ... Below are the most recent publications written about "Bardet-Biedl Syndrome" by people in Profiles. ...
According or a in of testicles Laurence-Moon syndrome pain 15,000 men from all gauge the what the average or a is: irregular ... Men epidermoid is a disorders testicles Laurence-Moon syndrome pain oral fluid facial flushing analysis best a prostate sample ...
Laurence-Moon syndrome DOID:1930 * dysplasia of prostate DOID:11535 * pyoureter DOID:1425 ...
Laurence-moon Syndrome Whats New Last Posted: Jan 30, 2023 * Clinical and genetic epidemiology of Bardet-Biedl syndrome in ...
Oliver-McFarlane syndrome 38% * Laurence-Moon Syndrome 33% * Choroideremia 29% 9 Scopus citations ... Vitelliform maculopathy in MELAS syndrome. Jahrig, C., Ku, C. A., Marra, M., Pennesi, M. E. & Yang, P., Jun 2023, In: American ... Characterization of the spectrum of ophthalmic changes in patients with alagille syndrome. da Palma, M. M., Igelman, A. D., Ku ... Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome. Igelman, A ...
Laurence-Moon-Biedl syndrome Active Synonym false false 1231576017 LMBB - Laurence-Moon-Bardet-Biedl syndrome Active Synonym ... Bardet-Biedl syndrome Active Synonym false false 10374011 ... Bardet-Biedl syndrome (disorder). Code System Preferred Concept ...
Classic Kallmann syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH) are rare genetic conditions that encompass ... Laurence-Moon-Biedl syndrome. * Luteinizing Hormone Deficiency. * Luteinizing hormone-releasing hormone deficiency ... Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism * Sections Kallmann Syndrome and Idiopathic Hypogonadotropic ... encoded search term (Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism) and Kallmann Syndrome and Idiopathic ...
Laurence-moon-bardet-biedl syndrome; Authors. Last updated on: 29.10.2020. Author: Prof. Dr. med. Peter Altmeyer ...
Laurence-Moon-Bardet-Biedl Syndrome Links. LMBB Society. Liver Links. British Liver Trust. ...
Lawrence-Moon-Biedl syndrome. *Increased energy consumption. *Intake of large portion of food ...
Kearns-Sayre syndrome. *Lawrence-Moon-Biedl syndrome. *Mitochondrial encephalopathy with lactic acidosis and stroke-like ...
Kearns-Sayre syndrome. *Lawrence-Moon-Biedl syndrome. *Mitochondrial encephalopathy with lactic acidosis and stroke-like ...
Wolframs syndrome, Friedreichs ataxia. • Huntingtons chorea. • Laurence-Moon-Biedl syndrome. • Myotonic dystrophy, porphyria ... Loss of 3.5g or more of protein in 24 hours may lead to the development of nephrotic syndrome. Hypertension develops during ...
Laurence-Moon Syndrome. *LEOPARD Syndrome. *Loeys-Dietz Syndrome. *Marfan Syndrome. *Mobius Syndrome ... It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and ... "22q11 Deletion Syndrome" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical ... Malformations of the middle and inner ear on CT imaging in 22q11 deletion syndrome. Am J Med Genet A. 2016 11; 170(11):2975- ...
Kara IG, Duzcan F., Aktan E. Laurence-Moon-Biedl syndrome with vaginal atresia. Scandinavian Journal of Plastic and ... Özek C, Gündoğan H, Bilkay U, Çankayalı R, Güner U, Tokat C, Özcan O.Ü, Gürler T, Songür E: Malpuech syndrome. 22nd National ... Van der Woude syndrome in twins. Journal of Craniofacial Surgery. September 2005; 16 (5): 936-9. 939. Tan EC, Lim ECP, Yap SH ... Syndrome. Scand. J Plastic Reconstruction Surgery and Hand Surgery 2003; 37 (5): 307-7. 10th. Bilkay U, Erdem O, Ozek C, ...
Laurence-Moon syndrome is characterized by obesity, intellectual disability, retinitis pigmentosa, and polydactyly. [ ... Prognosis - Kallmann syndrome - type 1 Treatment - Kallmann syndrome - type 1 Resources - Kallmann syndrome - type 1 [ ... Prevention - Kallmann syndrome - type 1 Diagnosis - Kallmann syndrome - type 1 Diagnostic methods consist of hormone evaluation ... During their teenage years, males with XYY syndrome may develop severe acne that may need to be treated by a dermatologist. [ ...
It may occur as part of a syndrome (eg, Bassen-Kornzweig, Laurence-Moon). One of these syndromes includes congenital hearing ... Patients with a hereditary syndrome may wish to seek genetic counseling before having children. ...
  • Laurence-Moon is a syndrome (set of related attributes) caused by a genetic mutation and characterized by the eye condition known as retinitis pigmentosa (RP) in addition to a variety of features that may include speech delay, learning disability , short stature, kidney disease, type 2 diabetes, polydactyly (extra fingers), obesity, weakness of the legs, and reproductive issues (including small male genitalia). (familyconnect.org)
  • 3) A case of laryngeal web with polydactyly associated with Laurence Moon Beidl-Bardet syndrome is also reported. (pediatriconcall.com)
  • Laurence-Moon syndrome is characterized by obesity, intellectual disability , retinitis pigmentosa, and polydactyly. (symptoma.com)
  • 2007). Although AS bears many similarities to Bardet-Biedl syndrome (BBS), there is no cognitive impairment, polydactyly, or hypogonadism in AS. (preventiongenetics.com)
  • It may occur as part of a syndrome (eg, Bassen-Kornzweig, Laurence-Moon). (msdmanuals.com)
  • In the past, LMS has also been referred to as Laurence-Moon-Bardet-Biedl or Laurence-Moon-Biedl-Bardet syndrome, but Bardet-Biedl syndrome (BBS) is now usually recognized as a separate entity. (wikipedia.org)
  • Recent advances in genetic typing of the phenotypically-wide variation in patients clinically diagnosed with either Bardet-Biedl Syndrome (BBS) or Laurence-Moon Syndrome (LMS) have questioned whether LMS and BBS are genetically distinct. (wikipedia.org)
  • Previously diagnosed as "Laurence-Moon-Bardet-Biedl syndrome," this is now differentiated as "Laurence-Moon syndrome" or "Biedl-Bardet syndrome," both rare genetic disorders with overlapping characteristics. (familyconnect.org)
  • Bardet-Biedl Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (uchicago.edu)
  • This graph shows the total number of publications written about "Bardet-Biedl Syndrome" by people in this website by year, and whether "Bardet-Biedl Syndrome" was a major or minor topic of these publications. (uchicago.edu)
  • Below are the most recent publications written about "Bardet-Biedl Syndrome" by people in Profiles. (uchicago.edu)
  • He was a known case of Laurence-Moon-Bardet-Biedl syndrome and had received a renal transplant 2 years ago and was receiving tacrolimus since then. (aku.edu)
  • In previous years, Laurence-Moon-Bardet-Biedl syndrome (LMBBS) was a term used to describe an inherited genetic condition that affected approximately 1 in 100,000 babies born. (netlify.app)
  • Visste du att: Varje Ã¥r föds det drygt 100 barn med Downs syndrom i Sverige Se hela listan pÃ¥ netdoktor.se Bardet-Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. (netlify.app)
  • His mother told me about LMBBS which stands for Laurence-Moon-Bardet-Biedl Syndrome, a recessive inherited genetic disorder with a whole range of symptoms, one of which is blindness. (seido.org.uk)
  • Genetic analysis in patients with Kallmann syndrome: coexistance of mutations in prokineticin receptor 2 and KAL1. (medscape.com)
  • Congenital renal abnormalities in the Laurence-Moon-Biedl syndrome. (bmj.com)
  • Of all the chromosomal abnormalities that result in spontaneous abortion or miscarriage, Turner's syndrome is the most common, accounting for about 20 percent of all miscarriages. (encyclopedia.com)
  • It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. (harvard.edu)
  • Abnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome. (harvard.edu)
  • A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. (sdsu.edu)
  • Abnormalities in the limbs and extremities may occur in Noonan syndrome. (handwiki.org)
  • This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY. (rush.edu)
  • Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. (medscape.com)
  • PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling-activity. (medscape.com)
  • Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. (medscape.com)
  • Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. (medscape.com)
  • Causes of male infertility - UpToDate Causes of male infertility Endocrine and systemic disorders (hypogonadotropic hypogonadism) Congenital disorders Congenital GnRH deficiency (Kallmann syndrome) Iron overload syndromes Multiorgan genetic disorders (Prader-Willi syndrome, Laurence-Moon-Biedl syndrome, familial cerebellar ataxia) Low sperm count (oligospermia) A malfunctioning immune system. (ubbcluj.ro)
  • Diabetes mellitus (DM) is a syndrome of chronic hyperglycaemia due to relative insulin deficiency, resistance or both. (basicmedicalkey.com)
  • 2) Many cases of anterior glottic webs have been reported to be associated with deletion of chromosome 22q11, causing a wide range of phenotype like Di George syndrome, velocardiofacial syndrome or shprintzen syndrome. (pediatriconcall.com)
  • It ranks third place among child development disorders in front of congenital malformations and Down's syndrome 21 . (bvsalud.org)
  • Kallman's syndrome (KS) is the most frequent cause of hypogonadotropic hypogonadism and affects approximately one in 10,000 males and one in 50,000 females. (encyclopedia.com)
  • Kallman's syndrome is found in all ethnic backgrounds. (encyclopedia.com)
  • A 12-year-old girl with Noonan syndrome, displaying typical webbed neck and double structural curve with rib deformity. (handwiki.org)
  • Noonan syndrome ( NS ) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. (handwiki.org)
  • A number of genetic mutations can result in Noonan syndrome. (handwiki.org)
  • [3] [1] Noonan syndrome is a type of RASopathy , the underlying mechanism for which involves attenuation of the RAS/MAPK cell signaling pathway. (handwiki.org)
  • Abnormal features of Noonan syndrome at the age of 3 months: Note the eyebrow slant and left-side eyelid dropping. (handwiki.org)
  • Abnormal features of Noonan syndrome at the age of 3 months: Note the low-set, posteriorly rotated, and abnormally formed ear. (handwiki.org)
  • The most common signs leading to the diagnosis of Noonan syndrome are unique facial characteristics and musculoskeletal features. (handwiki.org)
  • The facial characteristics are most prominent in infancy, becoming less apparent with age in many people with Noonan syndrome. (handwiki.org)
  • Some of the characteristic features of Noonan syndrome include a large head with excess skin on the back of the neck, low hairline at the nape of the neck, high hairline at the front of the head, triangular face shape, broad forehead, and a short, webbed neck. (handwiki.org)
  • In the eyes, hypertelorism (widely set eyes) is a defining characteristic, present in 95% of people with Noonan syndrome. (handwiki.org)
  • Development of the mouth may also be affected in Noonan syndrome. (handwiki.org)
  • Skin signs and symptoms in Noonan syndrome include lymphedema (lymph swelling of the extremities), keloid formation, excessive scar formation, hyperkeratosis (overdevelopment of outer skin layer), pigmented nevi (darkly pigmented skin spots), and connective tissue disease. (handwiki.org)
  • 16, 2020 Charles Bonnet Syndrome (CBS) is a condition that some people get when they lose some or all their vision. (netlify.app)
  • Severe fever with thrombocytopenia syndrome (SFTS) is caused by SFTS virus (SFTSV), a new tickborne bandavirus identified in China in 2009 ( 1 ), and subsequently in South Korea in 2013 ( 2 ), Japan in 2014 ( 3 ), Vietnam in 2019 ( 4 ), and Myanmar and Pakistan in 2020 ( 5 , 6 ). (cdc.gov)
  • Alström syndrome (AS) is a pleiotropic disorder characterized by retinal degeneration (occurs within the first year of life), childhood obesity, sensorineuronal hearing loss, Insulin resistance, type 2 diabetes, dilated cardiomyopathy and urological, renal, hepatic and pulmonary dysfunctions. (preventiongenetics.com)
  • And no, that zero isn't a typo - approximately 4 in 5 autist 2005-07-01 Dr. Barnett's clinical interests include anterior segment disease, dry eye, scleral lenses, Sjögren's Syndrome, contact lenses, keratoconus, myopia management, multifocal contact lenses, and specialty contact lenses. (netlify.app)
  • in cerebrospinal fluid predict long-term disability of Guillain-Barré syndrome: Rodica Balasa, Belgin Petek Balci, Michael Barnett, Ann Bass, Veit U. Becker, Barnett M. Chronic obstructive pulmonary disease: a phenomenological study of patients' experiences. (netlify.app)
  • Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including pyramidal signs, a dystonic-rigid extrapyramidal syndrome, significant peripheral amyotrophy and generalized areflexia, progressive external ophthalmoplegia, action-induced facial and lingual fasciculations, and bulging eyes. (nih.gov)
  • One of these syndromes includes congenital hearing loss as well (Usher syndrome). (msdmanuals.com)
  • Laurence-Moon syndrome (LMS) is a rare autosomal recessive genetic disorder associated with retinitis pigmentosa, spastic paraplegia, and mental disabilities. (wikipedia.org)
  • Laurence J.Z., Moon R.C.: Four cases of "retinitis pigmentosa" occurring in the same family, and accompanied by general imperfections of development, Ophthal. (wikipedia.org)
  • We will focus on the eye condition associated with Laurence-Moon syndrome, retinitis pigmentosa. (familyconnect.org)
  • The discussion of male infertility focuses on genetic factors impairing spermatogenesis and includes numerical chromosomal anomalies such as Klinefelter syndrome, structural chromosomal anomalies such as Y-chromosome microdeletions, certain single gene mutations, syndromic diseases, and epigenetic mutations. (ubbcluj.ro)
  • These have been subdivided into insulin-resistance syndromes and fibroblast growth factor defects. (medscape.com)
  • Insulin-resistance syndromes include those with mutations in the insulin receptors (ie, leprechaunism, Rabson-Mendenhall syndrome), peroxisome proliferator-activated receptor gamma (ie, type 1 diabetes with acanthosis nigricans and hypertension), 1-acylglycerol-3-phosphate O-acyl transferase-2 or seipin (Berardinelli-Seip syndrome), lamin A/C (Dunnigan syndrome), and Alstrom syndrome gene. (medscape.com)
  • Candidates for this test are patients with symptoms consistent with Alström syndrome. (preventiongenetics.com)
  • Alström syndrome (AS) is characterised by metabolic deficits, retinal dystrophy, sensorineural hearing loss, dilated cardiomyopathy and multi-organ fibrosis. (springer.com)
  • Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome. (childrensmercy.org)
  • Turner's syndrome occurs in approximately one out of every 2,500 live births. (encyclopedia.com)
  • Turner's syndrome leads to failure of puberty in some girls due to the lack of estrogen and progesterone production. (encyclopedia.com)
  • Turner's syndrome does not affect intelligence, although persons with the condition have poor spatial perception and mathematical aptitude, often accompanied by learning disabilities . (symptoma.com)
  • Filippi G. Klinefelter's syndrome in Sardinia. (medscape.com)
  • Males with Klinefelter's syndrome have an extra X chromosome, which causes abnormal development of the testicles. (ubbcluj.ro)
  • XYY syndrome has an incidence of one in 1,000 newborn males. (encyclopedia.com)
  • However, since many males with XYY syndrome look like other males without XYY syndrome, they may never be identified. (encyclopedia.com)
  • The actual incidence of infertility in males with XYY syndrome is unknown. (symptoma.com)
  • As several characteristics of Laurence-Moon are identified, a team of medical professionals will begin to piece together the puzzle and diagnose a child with Laurence-Moon. (familyconnect.org)
  • J. och välfärd för barnet pÃ¥ bÃ¥de kort och lÃ¥ng sikt (Monnat och syndrome": prevalence and clinical characteristics of domestic violence in. (netlify.app)
  • Patients with a hereditary syndrome may wish to seek genetic counseling before having children. (msdmanuals.com)
  • 2002). ALMS1 encodes the Alström syndrome protein 1, which is localized to centrosomes and the base of cilia. (preventiongenetics.com)
  • Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome-A Cross-Sectional Investigation. (harvard.edu)
  • These methods included convening MIS-C clinical experts (i.e., consultants) regarding identification of MIS-C and its distinction from other pediatric conditions, a review of available literature comparing MIS-C phenotype with that of pediatric COVID-19 and other hyperinflammatory syndromes, and retrospective application of different criteria to data from MIS-C cases previously reported to CDC. (cdc.gov)
  • Severe fever with thrombocytopenia syndrome virus (SFTSV) is a tickborne bandavirus mainly transmitted by Haemaphysalis longicornis ticks in East Asia, mostly in rural areas. (cdc.gov)