what is the simpson syndrome
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Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males. This condition is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal at birth (macrosomia) and continue to grow and gain weight at an unusual rate. The other signs and symptoms of Simpson-Golabi-Behmel syndrome vary widely.
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- Saethre–Chotzen syndrome (SCS), also known as Acrocephalosyndactyly type III is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull).
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- Sanfilippo Syndrome Sanfilippo Syndrome is a rare and catastrophic genetic disorder that takes its name from Dr. Sylvester Sanfilippo, one of the doctors who first described the condition in 1963.Sanfilippo Syndrome is a mucopolysaccharide disorder and is also known respectively as MPS III.It falls within a broader group of genetic disorders known as Lysosomal Storage Diseases. What these diseases share is an enzymatic defect which causes an accumulation of material within the cells of the body.hildren afflicted with Sanfilippo Syndrome are missing an essential enzyme that breaks down strings of a complex body sugar called heparan sulfate. The partially broken-down sugar, or mucopolysaccharide, accumulates in the brain and the bodys cells and tissue causing progressive damage.
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Antiphospholipid Syndrome (APS) Hughes syndrome is known medically as antiphospholipid syndrome (APS) and is usually associated with recurrent miscarriage, but it can also cause other pregnancy complications. It is diagnosed by specific blood tests. When a woman has three or more miscarriages in a row, this is known as recurrent miscarriage.
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Klinefelter's Syndrome Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. Read about the common symptoms and treatments. Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. The syndrome can affect different stages of physical, language, and social development. The most common symptom is infertility. Boys may be taller than other boys their age, with more fat around the belly. After puberty, KS boys may have. Smaller testes and penis
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- It's Not Noonan Syndrome. Noonan Syndrome is a genetic disorder and occurs in approximately 1 in 1,000 to 2,500 children. It's Not Chromosome 22q11.2 Deletions. Kids with chromosome 22q11.2 deletions can have many of the conditions the patient presented, including Graves' disease.
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Reye's Syndrome Reye's syndrome is a rare but often severe and even fatal illness that primarily occurs in children and adolescents. Children diagnosed with Reye's syndrome generally present with vomiting and mental-status changes. The illness can resolve spontaneously or progress to coma and death.
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Smith-Lemli-Opitz Syndrome Smith-Lemli-Opitz Syndrome: Introduction. Smith-Lemli-Opitz Syndrome: A rare genetic condition involving a severe defect in the process of cholesterol synthesis resulting in low cholesterol levels in cells but high levels of the chemicals that are made into cholesterol.
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Klinefelter's Syndrome Klinefelter's syndrome (KS) is a condition that occurs in men who have an extra X chromosome. The syndrome can affect different stages of physical, language, and social development.
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- Triple X syndrome (also known as triplo-X, trisomy X, XXX syndrome, 47,XXX aneuploidy) is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female. A mosaic form also occurs where only a percentage of the body cells contain XXX while the remainder carry XX.
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Williams syndrome Williams syndrome is a genetic condition that affects many parts of the body. Signs and symptoms include mild to moderate intellectual disability; unique personality traits; distinctive facial features; and heart and blood vessel problems.
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Simpson Gene It is unknown whether the Simpson Gene causes Homer Simpson Syndrome, though the males in the Simpson family seem to have a thing for putting pots and pans on their heads and head-butting, suggesting a connection.
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monosomy monosomy 9p− syndrome a rare chromosomal disorder in which a piece of the short arm of the ninth chromosome is broken and often lost.Symptoms include mental retardation, a triangular head with forward angulation of the frontal bone, and various other physical deformities.ee also aneuploidy. monosomic, adj. (1) A type of aneuploidy, defined by the formula 2n – 1, where n is the haploid number. (E.g., Turner syndrome or monosomy X.). (2) The state of having a single chromosome of a particular type; lacking a homologous chromosome (e.g., normal males are monosomic for the X chromosome).
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- Simpson's Diversity Index is a measure of diversity which takes into account both richness and evenness. Simpson's Diversity Indices The term 'Simpson's Diversity Index' can actually refer to any one of 3 closely related indices.
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Noonan syndrome Noonan syndrome (NS) is a relatively common autosomal dominant congenital disorder that affects both males and females.It is referred to as the male version of Turner's syndrome (and is still sometimes described in this way); however, the genetic causes of Noonan syndrome and Turner syndrome are distinct.t is believed that between approximately 1 in 1,000 and 1 in 2,500 children worldwide are born with NS. It is one of the most common genetic syndromes associated with congenital heart disease, similar in frequency to Down syndrome. However, the range and severity of features can vary greatly in patients with NS.
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- Marshall-Smith syndrome Simpson-Golabi-Behmel (SBGS), Sotos, Weaver (WVS) and Cohen-Gibson syndromes are overgrowth syndromes. They are characterized by pre- and postnatal overgrowth, accelerated osseous maturation, a characteristic craniofacial appearance, and developmental delay. read more
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What is Prader-Willi Syndrome Prader-Willi Syndrome (PWS) is a genetic disorder that occurs in approximately one out of every 15,000 births. PWS affects males and females with equal frequency and affects all races and ethnicities. PWS is recognized as a common genetic cause of childhood obesity.
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About Wolfram Syndrome What is Wolfram Syndrome? Wolfram Syndrome is a rare genetic condition leading to late childhood blindness (optic atrophy), diabetes mellitus, diabetes insipidus and deafness, along with other difficulties such as renal and neurological problems.
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- Turner syndrome is a rare chromosomal disorder that affects females. The disorder is characterized by partial or complete loss (monosomy) of one of the X chromosomes.Turner syndrome is highly variable and can differ dramatically from one person to another.eneral Discussion. Summary. Turner syndrome is a rare chromosomal disorder that affects females. The disorder is characterized by partial or complete loss (monosomy) of one of the X chromosomes. Turner syndrome is highly variable and can differ dramatically from one person to another.
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Proteus syndrome Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body.The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently.roteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body.
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What is Beckwith-Wiedemann syndrome? Beckwith-Wiedemann syndrome (BWS) is a genetic disorder commonly characterized by overgrowth.The disorder's severity varies widely in children. Patients usually come to medical attention because they are born with several features that occur together.eckwith-Wiedemann Syndrome. Beckwith-Wiedemann syndrome (BWS) is a genetic disorder commonly characterized by overgrowth. The disorder's severity varies widely in children.
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- Parsonage-Turner Syndrome (PTS) is a rare syndrome that may occur in otherwise normal healthy individuals with sudden, rather abrupt, unilateral shoulder pain that may begin rather insidiously but quickly amplifies in severity and intensity.
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Pfeiffer syndrome Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face.any of the characteristic facial features that Pfeiffer described in Pfeiffer syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to eyes that appear to bulge (proptosis) and are wide-set (hypertelorism), an underdeveloped upper jaw, and a beaked nose.
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Sessile serrated adenoma The serrated polyposis syndrome (SPS) is a relatively rare condition characterized by multiple and/or large serrated polyps of the colon. Diagnosis of this disease is made by the fulfillment of any of the World Health Organization’s (WHO) clinical criteria.
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- Beckwith-Wiedemann syndrome (BWS) is a genetic disorder, characterized by overgrowth in certain areas of the body. BWS has a wide range of symptoms and severity. Many features of BWS become less obvious as children get older.eckwith-Wiedemann syndrome (BWS) is a genetic disorder, characterized by overgrowth in certain areas of the body. BWS has a wide range of symptoms and severity. Many features of BWS become less obvious as children get older.
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androgen insensitivity syndrome Androgen insensitivity syndrome is inherited as an X-linked recessive trait requiring that only one parent pass on a copy of the defective gene on an X chromosome to male offspring. —called also testicular feminization, testicular feminization syndrome.