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Doctor insights on: Congenital Spherocytosis

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Can a stroke be congenital?

Can a stroke be congenital?

Sort of: You can have a stroke in the uterus (extremely, extremely rare) or any time after you are born. It is not really 'congenital' per se. What could be considered congenital would be risk factors such as a genetic predisposition to develop aneurysms in your brain or vascular malformations in your brain or bad athersclerotic disease of the arteries (hardening of the arteries). ...Read more

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Is lymphangioma congenital ?

Is lymphangioma congenital
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Yes: Yes lymphangioma is a congenital condition in the sense that it is something that a baby is born with. But it is also something that can progressively enlarge after birth. ...Read more

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What is a congenital "blebs" ?

What is a congenital "blebs" ?

A Bubble: Congenital means you are born with it, as opposed to acquiring it. A bleb is a small bubble or blister. The words "congenital blebs" are most common used to describe air sacs arising from the upper lung. Small ones are no problem, while larger blebs can pop, causing the lung to collapse (spontaneus pneumothorax). These are most common in people with tall thin torsos. Not sure if that's your bleb. ...Read more

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Is moyamoya a congenital disease?

Is moyamoya a congenital disease?

YES: Moyamoya disease is generally a congenital disease affecting the arteries of the brain causing them to gradually occlude. Fortunately, collaterals develop to supply blood to critical areas of the brain. These vessels can be frail and are prone to bleeding - which can cause a stroke. ...Read more

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Is Down's syndome a congenital disorder?

Is Down's syndome a congenital disorder?

Down's Syndrome: Is a congenital disorder where an affected person has extra genetic material at Chromosome 21. It is the most common genetic condition in the United States. ...Read more

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What do I do for hereditary spherocytosis?

What do I do for hereditary spherocytosis?

It depends on the...: Severity of your disease. There is wide variation in the clinical presentation, even within the same family (presumably the same mutation). This is because of the influence of "modifier" loci. Hs cells are more fragile as they pass through the circulation. The bone marrow works harder to compensate. Pts are at risk for hemolytic and aplastic crises. Take folate (folic acid) supplement. Be eval'd 4 abd pain. ...Read more

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What are some congenital metabolic errors?

What are some congenital metabolic errors?

Several: Phenylketonuria (PKU), congenital hypothyroidism, galactosemia, congenital adrenal hyperplasia, glucose-6-phosphate dehydrogenase deficiency, maple syrup urine disease, medium chain acyl-CoA dehydrogenase deficiency, homocystinuria, glutaric academia type I, isovaleric acidemia and methylmalonic academia. These 11 congenital metabolic disorders are included in the newborn screening program. ...Read more

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Whats congenital generalized lipodystrophy?

Whats congenital generalized lipodystrophy?

Fat distribution: This is very rare and both parents are typically carriers. The tissue under the skin has almost no fat under it. Instead, fat accumulates inside muscles, liver, heart. Triglycerides get very high and patients are resistant to insulin. Kids may develop early pubic hair and get diabetes. There are many more details. This condition is very serious. ...Read more

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What is the most lethal congenital deformity?

What is the most lethal congenital deformity?

Cardiac defects: Depends on how you want to start? The most lethal would be if the defects (such as anencephaly or hypoplastic left heart syndrome) cause stillbirth (late fetal death) or infant death or pregnancies are terminated after the prenatal diagnosis of fetal defects in more than 50% of cases. ...Read more

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Can you tell me about hereditary spherocytosis?

Can you tell me about hereditary spherocytosis?

Fragile RBCs: Hereditary spherocytosis (hs) is the most common inherited anemia in persons of northern european descent. It is caused by a mutation that changes the shape of red blood cells (rbcs) that makes them more fragile. Hs can range from almost no symptoms to more severe symptoms requiring blood transfusions. Sometimes splenectomy is required. A hematologist can advise you about what to look out for. ...Read more