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Doctor insights on: Causes Of Weber Syndrome

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What causes of fragile x syndrome?

What causes of fragile x syndrome?

Gene mutation: Fragile x syndrome is due to a mutation within the fmr1 gene on x chromosome. Part of the gene gets repeated too many times. It is the most common genetic cause of intellectual disability. Please see: http://www.Ncbi.Nlm.Nih.Gov/pubmedhealth/pmh0002633/ and http://www.Fragilex.Org/ for more information. ...Read more

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Common symptoms of Marfan's syndrome?

Marfan Syndrome: There is significant variability in how marfan syndrome presents in people. Possibly symptoms include: tall height; long arms, legs, fingers & toes, heart murmur, curved spine, flat feet, nearsightedness & deformity of the breast bone. ...Read more

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What type of mutation causes alagille syndrome?

What type of mutation causes alagille syndrome?

Autosomal dominant: Alagille syndrome has an autsomal dominant genetic inheritance pattern. It is rare, however, and affects the heart and liver primarily. In 90% of cases, mutations on chromosome 20 that affect the JAG1 gene causes this syndrome. A few people have mutations in a gene called NOTCH2. Defects in these genes are thought to lead to abnormal embryonic development in the affected organs. ...Read more

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Is fatigue one of the common symptoms of hypermobility syndrome?

Is fatigue one of the common symptoms of hypermobility syndrome?

No: Common symptoms include subluxation or dislocation of shoulders and patella. Generalized fatigue is not a part of this syndrome. If this persists you should see your primary care doctor to look into your fatigue. ...Read more

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What are the common symptoms of williams syndrome?

What are the common symptoms of williams syndrome?

Growth and cardiac: Williams syndrome patients have often growth deficiency. Language ability is greater than cognitive ability. They are friendly, have a hoarse voice, anxious, hypersensitive to sounds. Often, they have blue eyes, with a stellate pattern in the iris, prominent lips, hypoplastic nails, poor dentition. Supravalvular aortic stenosis and peripheral pulmonary stenosis are common. Renal anomalies as well. ...Read more

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What causes turner syndrome, noonan syndrome, & the rare klippel-fell syndrome? What happens during fetal development that causes these conditions?

What causes turner syndrome, noonan syndrome, & the rare klippel-fell syndrome? What happens during fetal development that causes these conditions?

A genetic accident: During formation of the egg or sperm can leave out an x chromosome in either one. A fetus whose genetic make-up includes the germ cell missing a chr. X has turner syndrome. One of 8 different genetic mutations is passed on to a fetus by 1 parent or happens spontaneously to cause noonan syndrome. 2 related genetic mutations are passed on to the fetus by 1 parent to cause klippel-feil syndrome. ...Read more

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What are the symptoms of alagille syndrome?

What are the symptoms of alagille syndrome?

Jaundice: Alagille syndrome is an autosomal dominant inherited rare condition that primarily affects the liver. Symptoms can be mild or so severe as to require liver transplantation. Jaundice and skin itching are the primary symptoms. ...Read more

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What are the symptoms of hughes syndrome?

What are the symptoms of hughes syndrome?

Clots & miscarriage: Hughes syndrome, aka antiphospholipid syndrome, is a clotting disorder leading to an increased tendency to blood clotting. It may be autoimmune in origin. Symptoms include migraine headache, memory loss, pulmonary embolism, mottled skin (see photo), recurrent miscarriage, abdominal pain & stroke. For more information visit this website: http://www.Hughes-syndrome.Org. ...Read more

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What are the symptoms of rett syndrome?

Regressed developmen: The hallmark is a developmental regression usually starting in the first 2 years. This is associated with loss of visuion ...Read more

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What sort of disorder is compartment syndrome?

What sort of disorder is compartment syndrome?

Serious: Compartment syndrome is related to the pressures inside muscle groups, generally in the limbs. These muscles are grouped into large segments, and if the pressures inside them go up, it can cut off the venous or arterial blood flow, thus causing necrosis of the tissues. ...Read more

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What are common symptoms of angelman syndrome?

Dr. Alan Ali Dr. Ali
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What are common symptoms of angelman syndrome?

Angelman syndrome: Severe developmental delays, sleep disturbance, jerky movements, seizures, intellectual deficits, & a happy demeanour. ...Read more

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What're the symptoms and causes of stevens-johnson syndrome?

What're the symptoms and causes of stevens-johnson syndrome?

Severe rash from med: Severe skin rash often from drug allergy, esp sulfa drugs, but also can be from connective tissue diseases. ...Read more

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What are the symptoms of hypermobility syndrome?

What are the symptoms of hypermobility syndrome?

Loose Joints: Sometimes referred to as "loose joints, " and those affected are referred to as being "double jointed." often joint hypermobility causes no symptoms and requires no treatment. When present symptoms of the joint hypermobility include pain and instability in the hypermobile joints such as the: knees, fingers, hips, and elbows. Treatments are customized for each individual based on symptoms. ...Read more

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What are the presenting symptoms of metabolic syndrome?

What are the presenting symptoms of metabolic syndrome?

Many: Presaging cluster of problems with metabolic syndrome is Insulin resistance associated with an apple build, weight on the middle. Insulin in excess amounts is inflammatory. Then issues such as hirsuitism, pcos, may develop in women, followed by hyperglycemia during pregnancy. Afterwards, men and women may see lipid alterations (high triglycerides, and low HDL levels. \bp problems and type 2dm comes. ...Read more

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What are the causes of raynauds syndrome?

What are the causes of raynauds syndrome?

Usually cold: Raynauds involves cold or stress induced vasospasm of small vessels in hands and feet. It is really more of an annoyance than a harmful problem. Calcium channel blockers are the most common medication that physicians use to treat the symptoms of raynauds. The main drawback is the side effects from these medicines. Keeping your hands and feet warm remains the best treatment. ...Read more

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What are the symptoms of turner syndrome?

What are the symptoms of turner syndrome?

Turner syndrome: Symptoms and features of turner syndrome: thick neck, wide chest with distant nipples, osteoporosis, short stature, higher risk of diabetes, osteoporosis, heart murmur secondary to heart disease, arms turning outwards at the elbows, not having periods during pubertal age, learning disability. ...Read more

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What are the symptoms of digeorge syndrome?

What are the symptoms of digeorge syndrome?

22q11.2 deletion: Wide variation including congenital heart disease (conotruncal abnormalities), cleft palate, t cell deficiency (thymic hypoplasia/aplasia), parathyroid deficiency (hypocalcemia), learning difficulties, and schizophrenia. ...Read more

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Whats the genetic cause of fragile x syndrome?

Whats the genetic cause of fragile x syndrome?

Defective gene: It is an anomaly in the long arm of the x chromosome. Full mutations of the gene cause the fragile x syndrome. ...Read more

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What are characteristics of menkes syndrome?

What are characteristics of menkes syndrome?

Menkes: Menkes syndrome is caused by a defect in the atp7a gene. The defect makes it hard for the body to distribute and absorb copper. As a result, the brain and other parts of the body do not get enough copper. Low copper levels can affect the structure of bone, skin, hair, and blood vessels and interfere with nerve function. Copper also builds up in the small intestine and kidneys. ...Read more