waardenburg syndrome symptoms
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Alone we are rare. Together we are strong.â¥ Donate Today Signs & Symptoms. Primary features of Waardenburg syndrome (WS) may include distinctive facial abnormalities; unusually diminished pigmentation (hypopigmentation) of the hair, the skin, and/or the irides or the iris of both eyes (partial albinism); and/or deafness that is present at birth (congenital).
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Wolff-Parkinson-White Syndrome Symptoms of Wolff-Parkinson-White Syndrome . WPW syndrome can cause these problems with your child’s heartbeat: Their heart beats too quickly (tachycardia, pronounced tack-ih-CARD-ee-ah). Their heartbeat is irregular — the speed and pattern change. They have palpitations.
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Pelizaeus-Merzbacher disease Connatal Pelizaeus-Merzbacher disease is the more severe of the two types. Symptoms can begin in infancy and include problems feeding, a whistling sound when breathing, progressive spasticity leading to joint deformities (contractures) that restrict movement, speech difficulties (dysarthria), ataxia, and seizures.
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Symptoms No symptoms in most people. Most people (70-80%) who become infected with West Nile virus do not develop any symptoms. Febrile illness in some people. About 1 in 5 people who are infected will develop a fever with other symptoms such as headache, body aches, joint pains, vomiting, diarrhea, or rash. Most people with this type of West Nile virus disease recover completely, but fatigue and weakness can last for weeks or months. Severe symptoms in a few people.
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APES Diseases By the second or third day, you'll develop other signs and symptoms that may include: 1  Cough, which may bring up mucus and sometimes blood. 2  Shortness of breath. 3  Chest pain.  Gastrointestinal symptoms, such as nausea, vomiting and 1  diarrhea. Confusion or other mental changes.
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Beckwith-Wiedemann Syndrome or BWS: Causes, Symptoms, Treatment, Prognosis In some cases of Beckwith-Wiedemann Syndrome, the child is born with an open abdominal wall which causes the internal organs to protrude outside from the opening or the belly button. Umbilical hernia is also one of the common symptoms of Beckwith-Wiedemann Syndrome. An enlarged tongue is also a symptom of Beckwith-Wiedemann Syndrome.
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- The word yoga is derived from the root yuj, which means to unite or to join together. The practice of yoga may lead to the union of the human with the divine - all within the self. The aim of yoga is the transformation of human beings from their natural form to a perfected form. The Yogic practices originated in the primordial depths of India's past.
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Waardenburg syndrome (WS) Mutations in PAX3, which encodes a paired homeodomain transcription factor, are responsible for Waardenburg syndrome 1 and 3. PAX3 was shown to bind and transactivate the MITF promoter, thereby demonstrating the role of PAX3 in the regulation of MITF expression.
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- This type of Huntington’s disease is less common. Symptoms usually start to appear in childhood or adolescence. Early-onset Huntington’s disease causes mental, emotional, and physical changes, such as: 1  drooling. 2  clumsiness. 3  slurred speech. 4  slow movements. 5  frequent falling.
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- The list of signs and symptoms mentioned in various sources for Kleine-Levin Syndrome includes the 14 symptoms listed below: 1  Somnolence. 2  Morbid hunger. 3  Motor unrest. 4  Irritability. Incoherent speech. 5  Hallucination. Excessive need for 6  sleep. Lack of 7  energy. Hypersensitivity to  noise. Disorientation.
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Bacterial & Viral Infections Other symptoms of rubella (these are more common in teens and adults) can include headache, loss of appetite, mild conjunctivitis (inflammation of the lining of the eyelids and eyeballs), a stuffy or runny nose, swollen lymph nodes in other parts of the body, and pain and swelling in the joints (especially in young women).
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Chest Pain in Children and Adolescents In adolescents and young adults, the sensation of “heart skipping” (palpitations) or fast heart rate, shortness of breath, and chest pain may be the first symptoms. Growth and development are usually normal in patients with Ebstein anomaly.
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Mosquito Magnet - Fatal Attraction for Mosquitoesâ¢ West Nile Virus symptoms include fever, headache, nausea, vomiting, and rash, which are mild symptoms to severe symptoms that include neck stiffness, stupor, disorientation, tremor, coma, vision loss, and paralysis. These severe symptoms could last weeks or could be permanent.
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What are Legionnaires' disease and Pontiac fever? Other symptoms of Legionnaires' disease include confusion, a feeling of sickness (nausea), being sick (vomiting) and diarrhoea. About 3 in 10 people have symptoms that affect the gut (gastrointestinal tract). Complications can develop and can cause heart, brain, kidney or blood problems.
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Huntington's Disease: Symptoms and Treatment Symptoms can vary greatly from person to person. And stress or excitement can worsen symptoms. Some symptoms are easier to spot than others. Abnormal movements may be the first thing you notice. Weight loss can be a concern at all stages. Symptoms of Huntington's disease tend to develop in stages. Early stage.
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- The signs and symptoms of von Willebrand disease (VWD) depend on which type of the disorder you have. They also depend on how serious the disorder is. Many people have such mild symptoms that they don't know they have VWD. If you have type 1 or type 2 VWD, you may have the following mild-to-moderate bleeding symptoms: 1  Frequent, large bruises from minor bumps or injuries. 2  Frequent or hard-to-stop nosebleeds. 3  Prolonged bleeding from the gums after a dental procedure. 4  Heavy or prolonged menstrual bleeding in women.
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Waardenburg Syndrome Symptoms and Types Waardenburg syndrome is a genetic disorder characterized by patchy areas of depigmentation (albinism) of the skin and hair. One type of Waardenburg syndrome also produces congenital deafness (deaf at birth). This disorder is believed to account for 2-3% of all cases of congenital deafness.
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Budd-Chiari Syndrome (Budd-Chiari's syndrome) 1  Some people have no symptoms, but others experience fatigue, abdominal pain, nausea, and jaundice. 2  Fluid may accumulate in the abdomen, the spleen may enlarge, and sometimes severe bleeding occurs in the esophagus. 3  Doppler ultrasonography can detect narrowed or blocked veins.
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What does 'Fundamentals' mean What does 'Fundamentals' mean. The fundamentals include the qualitative and quantitative information that contributes to the economic well-being and the subsequent financial valuation of a company, security or currency. Analysts and investors analyze these fundamentals to develop an estimate as to whether the underlying asset is considered a worthwhile investment.
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- The list of signs and symptoms mentioned in various sources for Plasmodium ovale includes the 8 symptoms listed below: 1  Flu-like symptoms. 2  Fatigue. 3  Diarrhea. 4  Chills. 5  Bouts of fever. 6  Nausea. 7  Edema. 8  Prone to relapse following treatment. 9  more information...».
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Tay-Sachs Disease Those with the chronic form of Tay-Sachs develop symptoms by the age of 10, but the disease progresses slowly. Symptoms may include slurred speech, muscle cramps, and tremors. Life expectancy varies with this form of the disease, and some individuals have a normal lifespan.
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- The list of signs and symptoms mentioned in various sources for Hartnup Disease includes the 23 symptoms listed below: 1  Itchy rash only on light exposed areas. 2  Headache. 3  Intermittent ataxia. 4  Abdominal pain. 5  Chest pain. 6  Pain in the extremities. 7  Crying spells. 8  Mental retardation if untreated. 9  Fainting.
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Stevens Johnson syndrome Stevens Johnson syndrome symptoms. A person that is affected by the syndrome will experience coughs, sore throat, fever and burning sensation in the eyes. The individual may not know that he or she has Stevens Johnson syndrome until skin rashes emerge several days after the early symptoms appear. Among the manifestations of the syndrome include: 1  Skin pain. 2  Inflamed tongue and face. 3  Hives. 4  Skin sloughing. 5  Purple or red rashes on the skin. 6  Blisters on the skin, mouth, eyes, nose and mucous membranes.
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Chagas Disease (American Trypanosomiasis or Kissing Bug Disease) The symptoms and signs of Chagas disease can be quite variable and range from no symptoms at all to severe and distressing symptoms. The first symptoms and signs, when present in the acute phase, may include some of the following:
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PraderâWilli syndrome Prader–Willi syndrome. Prader–Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes. In newborns symptoms include weak muscles, poor feeding, and slow development. In childhood the person becomes constantly hungry which often leads to obesity and type 2 diabetes.