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Doctor insights on: Congenital Megacolon

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Megacolon (Definition)

Dilation and hypertrophy of the large intestine, due to ...Read more


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What genetic syndromes associated with congenital hydronephrosis ?

What genetic syndromes associated with congenital hydronephrosis ?

Genetics : There are many causes of hydronephrosis. Often hydronephrosis is found on prenatal ultrasounds but is not seen on postnatal ultrasounds. Any kidney or bladder malformation can cause hydronephrosis. In infants, posterior urethral valves, kidney stones, cystic kidneys, abdminal masses or any stenosis of the urethra or ureters may cause hydronephrosis. ...Read more

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Is hirschsprung's disease a common birth defect?

Is hirschsprung's disease a common  birth defect?

Not so rare: It occurs in about 1 out of every 5,000 newborns and is most common in male babies. Some instances are familial. Down syndrome has fifteen fold increase in incidence of Hirschsprung's disease. ...Read more

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Are congenital heart defects usually deadly?

Are congenital heart defects usually deadly?

No: In fact, most babies with congenital heart disease are expected to reach adulthood. Some of the more severe lesions have up to a 30% mortality in the first year, however these are less common than the more treatable defects. ...Read more

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What is congenital diaphragmatic hernia?

What is congenital diaphragmatic hernia?

Variable defect: When the diaphram fails to finish forming, a hole is left between the chest ; abdomen ; bowel can slip into the lung cavity (herniate) before or just after birth(when baby starts to cry ; swallow air).If the lung forms well ; bowel slips later, there is a better chance of lomg term survival. Without room to form the lung on that side can fail.Rapid recognition ; suportiive care is a must. ...Read more

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Are congenital heart defects hereditary?

Are congenital heart defects hereditary?

Depends on variables: There are a few syndromes with high frequency of specific heart defects that can have inheritance risk up to 50%. Most, however, are part of a complex inheritance pattern with around 5% risk.This 5% would include any pattern of congenital heart defect, not necessarily the same one. ...Read more

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Which antibiotic causes congenital heart disease?

Which antibiotic causes congenital heart disease?

No Known : Some medications are known to cause birth defects if taken by a pregnant woman. However, I am not aware of any known associations with antibiotics causing specific heart defects in pregnancy. ...Read more

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Is intestinal malrotation treatable?

Is intestinal malrotation treatable?

Treatable error: In fetus in initial stages of development all bowel is out side like a garden house, as abdominal wall develops it returns back in side in a systemic patron get rearranged by a series of steps, ( called rotation ) partial failure , like bands ( lad's ) etc called partial malrotation will cause obstruction of bowel in new born or later stages of life.Yes treatable by surgery. ...Read more

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What chromosome is congenital melanocytic nevi syndrome?

What chromosome is congenital melanocytic nevi syndrome?

No specific link: The congenital melanocytic nevus syndrome is considered sporadic in its occurrence.A few available studies of biopsy material have found abnormalities on the 1st, 12th or 19 th chromosome but no consistent pattern is reported.See the recent article : www.Ncbi.Nlm.Nih.Gov/pmc/articles/pmc2994429. ...Read more

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Is hirschsprung's disease inheritiable?

Is hirschsprung's disease inheritiable?

Constipation: Hirschsprung's disease is a congenital disease. You are born with it. It causes constipation and /or obstruction due to non functioning of intestinal nerves. It is treatable, but may require surgery to diagnose and treat. In some cases it is heriditary but usually it is sporadic. ...Read more

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What is fontan operation in congenital heart defects?

What is fontan operation in congenital heart defects?

Fontan Procedure: The fontan is a surgery that connects the inferior venacava (ivc) to the pulmonary arteries. The fontan is the final surgery for patients who have a single ventricle or single ventricle physiology. This means that the blue blood, desaturated blood retruning to the heart is directed to the lungs without being pumped through the heart. ...Read more

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Is congenital heart disease genetic?

Is congenital heart disease genetic?

Some of it: Even though 8 out of every 1000 babies born will have have some form of heart defect, when there is a first line family member affected the number goes up to about 16-30/1000 (for some particular defects this number will be higher) so this would suggest a genetic component...We just haven't learned enough about genetics and the heart to be more precise, but this is changing every day. ...Read more

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Is hirschsprung's disease hereditary?

Is hirschsprung's disease hereditary?

Some familial cases: Disease can be familial or develop spontaneously. It is more common in boys than girlls.Approximately 3-5 % of male siblings and 1 percent of female siblings of children with short-segment disease also have the disease.Risk substantially higher (12.4-33%) in siblings of children with total colonic involvement.Eight genomes have been associated with Hirschsprung’s disease.Most cases not familial. ...Read more

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Is hirschsprung disease dangerous to an infant?

Can be: Hirschsprung disease has occasionally gone un-diagnosed for a period of time & some kids have developed a severe enterocolitis & died during the illness. With diagnosis, monitoring& treatment a kid can have a realatively normal life. ...Read more

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Could my son be born with cah congenital adrenal hyperplasia?

Could my son be born with cah congenital adrenal hyperplasia?

Oh, now i know CAH: Previous answer, i thought it meant chronic active hepatitis. Yes, a girl or boy can be born with cong adrenal hyperplasia; this refers to a group of inherited disorders of the adrenal gland, where there is a lack of a hormone needed to make certain steroid hormones. Male sex characteristics may appear earlier than normal. Time for a pediatric endocrinologist, if there is any question of this. ...Read more

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Can adult Hirschsprungs, redundancy of transverse colon, cause accessory spleen from spleen injury caused by colon adhesion at the splenic flexure?

Can adult Hirschsprungs, redundancy of transverse colon,  cause accessory spleen from spleen injury caused by colon adhesion at the splenic flexure?

Not quite, but....: An accessory spleen is something that one person in four is born with, or that can happen if the splenic capsule is torn and some of the pulp is released. If this happened at the time that an injury formed the colonic adjesion, this may be the explanation. Accessory spleens are little curiosities for the most part. Best wishes. ...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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