what is laurence moon biedl syndrome
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- This is a rare autosomal recessive condition. Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet syndrome are no longer considered valid terms, because the patients of Laurence and Moon had paraplegia, but no polydactyly or obesity, which are the main characteristics of Bardet-Biedl syndrome.
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- Sickle cell anemia is a disease passed down through families in which red blood cells form an abnormal crescent shape. -LRB-Red blood cells are normally shaped like a disc. -RRB-My friend has been diagnosed with low red blood cell anemia and is being given procrit shots.ickle cell anemia is caused by an abnormal type of hemoglobin called hemoglobin S. Hemoglobin S distorts the shape of red blood cells, especially when there is low oxygen.The distorted red blood cells are shaped like crescents or sickles.
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Uncombable hair syndrome What is uncombable hair syndrome? Uncombable hair syndrome (UHS) is a rare disorder of the hair shaft of the scalp. It is usually characterized by silvery-blond or straw-colored hair that is disorderly; stands out from the scalp; and cannot be combed flat. It may first become apparent from 3 months of age to 12 years of age.
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Birt-Hogg-DubÃ© Syndrome What is Birt-Hogg-Dubé syndrome? Birt-Hogg-Dubé syndrome (BHD) is a hereditary condition associated with multiple noncancerous (benign) skin tumors, lung cysts, and an increased risk of both benign kidney tumors and kidney cancer. Symptoms of BHD generally do not appear until adulthood.
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- What is hemolytic-uremicsyndrome? Hemolytic-uremic syndrome is a serious kidney diseaseusually occurring in children under age 4. Most of the timeit results from eating foods contaminated with a type ofEscherichia (E.) coli bacteria. Other causes are also possi-ble.
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Reye syndrome Reye syndrome What is Reye syndrome? Reye syndrome is a condition that affects the normal chemical balance in the body, resulting in damage to the brain, kidneys, and liver. As the inflammation in the brain increases, the pressure inside of the head may also increase. The increased pressure in the head causes neurological changes in the child.
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- 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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MR Imaging Features of Acquired Brown Syndrome SUMMARY: Brown syndrome describes the inability of a patient to perform an upward gaze while the eye is adducted due to an abnormality of the superior oblique tendon sheath complex. Use of CT in diagnosing the condition has been reported; however, the use of MR imaging has not.
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- Definition. Charles Bonnet syndrome (CBS) is the occurrence of phantom visions in people living with some form of eye disease* who are otherwise cognitively and psychologically healthy. These phantom images co-exist with one's usual perception. * vision impairment or damage to the visual regions of the brain.Or put simply:harles Bonnet syndrome (CBS) is the occurrence of phantom visions in people living with some form of eye disease* who are otherwise cognitively and psychologically healthy. These phantom images co-exist with one's usual perception. * vision impairment or damage to the visual regions of the brain. Or put simply:
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Fetal alcohol spectrum disorder Fetal alcohol spectrum disorders (FASD) are a group of conditions that can occur in a person whose mother drank alcohol during pregnancy. Problems may include an abnormal appearance, short height, low body weight, small head, poor coordination, low intelligence, behavior problems, and problems with hearing or seeing.etal alcohol spectrum disorders are caused by drinking alcohol during pregnancy. Surveys from the United States, have found about 10% of pregnant women have drunk in the last month and 20% to 30% drank at some point during the pregnancy.
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Overview Reye's syndrome. Definition. Reye's (Ryes) syndrome is a rare but serious condition that causes swelling in the liver and brain. Reye's syndrome most often affects children and teenagers recovering from a viral infection, most commonly the flu or chickenpox.
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- Beckwith-Wiedemann syndrome (BWS) is a rare genetic overgrowth disorder. It is characterized by a wide spectrum of symptoms and physical findings that vary in range and severity from case to case.eckwith-Wiedemann syndrome (BWS) is a rare genetic overgrowth disorder. It is characterized by a wide spectrum of symptoms and physical findings that vary in range and severity from case to case.
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Rotor's Syndrome Overview What is Rotor's syndrome? Rotor's syndrome is a rare inherited disease that can cause jaundice in an infant or young child. An abnormal gene causes bilirubin to buildup in the bloodstream. Bilirubin is one of the by-products from the breakdown of hemoglobin, which carries oxygen in the bloodstream. High bilirubin levels cause jaundice.
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- About one-quarter of all cases of Bardet-Biedl syndrome result from mutations in the BBS1 gene. Another 20 percent of cases are caused by mutations in the BBS10 gene. The other BBS genes each account for only a small percentage of all cases of this condition.ther major signs and symptoms of Bardet-Biedl syndrome include the presence of extra fingers and/or toes (polydactyly), intellectual disability or learning problems, and abnormalities of the genitalia.
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- Birt–Hogg–Dube syndrome is an autosomal dominant condition of lung cysts, benign skin tumours and renal cell carcinoma. Cysts can rupture to cause pneumothorax. Causative mutations are found in the Folliculin gene. Some Folliculin gene mutations appear to cause only the cystic lung disease without other features of Birt–Hogg–Dube syndrome, as in the case illustrated. Note the irregular thin‐walled cysts (arrow heads).
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Ghetto White Boy Syndrome Ebono-Cracka Reclassification Syndrome, more commonly referred to as Ghetto White Boy Syndrome is a serious mental infection found predominately in Caucasian males between the ages of 12 and 27, although it also occurs less often in females and people from other ethnic backgrounds (excluding black).
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- What is Hepatopulmonary Syndrome. Hepatopulmonary Syndrome (HPS) is a rare abnormality of the lung which is caused by liver disease. Although not all patients with liver disease get this lung abnormality, patients who do have it can become short of breath and have low oxygen levels.
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Fetal alcohol spectrum disorder Fetal alcohol spectrum disorders (FASD) are a group of conditions that can occur in a person whose mother drank alcohol during pregnancy. Problems may include an abnormal appearance, short height, low body weight, small head, poor coordination, low intelligence, behavior problems, and problems with hearing or seeing.etal alcohol syndrome (FAS) is the first diagnosable condition of FASD that was discovered. FAS is the only expression of FASD that has garnered consensus among experts to become an official ICD-9 and ICD-10 diagnosis.
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Learn how UpToDate can help you. Michael E Ross, MD. Li-Fraumeni syndrome is an inherited autosomal dominant disorder that is manifested by a wide range of malignancies that appear at an unusually early age [1,2]. Li-Fraumeni syndrome is also known as the Sarcoma, Breast, Leukemia, and Adrenal Gland (SBLA) cancer syndrome.
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Angelman Syndrome Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems. The physician Harry Angelman first delineated the syndrome in 1965, when he described several children in his practice as having flat heads, jerky movements, protruding tongues, and bouts of laughter..ngelman syndrome is a genetic disorder that causes developmental delay and neurological problems. The physician Harry Angelman first delineated the syndrome in 1965, when he described several children in his practice as having flat heads, jerky movements, protruding tongues, and bouts of laughter..
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- Parinaud's Syndrome, also known as dorsal midbrain syndrome is a group of abnormalities of eye movement and pupil dysfunction. It is caused by lesions of the upper brain stem and is named for Henri Parinaud (1844–1905), considered to be the father of French ophthalmology. Parinaud's Syndrome is a cluster of abnormalities of eye movement and pupil dysfunction, characterized by: 1. Paralysis of upgaze: Downward gaze is usually preserved. This vertical palsy is supranuclear, so doll's head maneuver should elevate the eyes, but eventually all upward gaze mechanisms fail. 2. Pseudo-Argyll Robertson pupils: Accommodative paresis ensues, and pupils become mid-dilated and show light-near dissociation.
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- Beckwith-Wiedemann syndrome is a genetic fetal overgrowth disturbance characterized by organomegaly, abdominal wall defects, postnatal hypoglycemia, and increased frequency of embryonic and postnatal tumors. Hearing loss in connection with this syndrome is rare.We describe a patient with Beckwith-Wiedemann syndrome having a progressive conductive hearing loss caused by a stapedial footplate fixation occurring during preschool age.We studied progression of the hearing impairment audiometrically from the patient's fourth year of life until age 19.e describe a patient with Beckwith-Wiedemann syndrome having a progressive conductive hearing loss caused by a stapedial footplate fixation occurring during preschool age. We studied progression of the hearing impairment audiometrically from the patient's fourth year of life until age 19.
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Secretin stimulation test Secretin stimulation test. The secretin stimulation test measures the ability of the pancreas to respond to a hormone called secretin. The small intestine produces secretin when partially digested food from the stomach moves into the area. The doctor inserts a tube through your nose and into your stomach. The tube is then moved into the first part of the small intestine (duodenum). You are given secretin through a vein (intravenously). The fluids released from the pancreas into the duodenum are removed through the tube over the next 1 to 2 hours.
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Search for a rare disease Summary. Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus (see this term) which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus.The prevalence is unknown.LPP is more frequent in women than in men. The disease manifests in adulthood (40-60 years of age), with some rare cases in childhood.t may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus. The prevalence is unknown. LPP is more frequent in women than in men.
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MOZAMBIQUE To the north of Mozambique lies Tanzania, to the northwest Malawi and Zambia, to the west Zimbabwe, and to the southwest South Africa and Swaziland. Maputo, the capital of Mozambique, is situated at the pointy southern tip of the country's territory, not far from the South African and Swaziland border.
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- What is Hirschsprung's disease? Hirschsprung's disease is a birth defect that affects the nerve cells in the large intestine. These nerve cells control the muscles that normally push food and waste through the large intestine. In babies who have Hirschsprung's disease, the muscles in the wall of the large intestine don't relax, which prevents stool from passing. This can lead to trapped stool, infection, pain and swelling, and bowel problems.