Top
20
Doctor insights on: Congenital Generalized Hypertrichosis

Share
4

4
What are common congenital disorders?

What are common congenital disorders?

Birth defects: The most common severe congenital anomalies are heart defects, neural tube defects and Down syndrome. ...Read more

5

5
Can there be congenital absences of all or some of theteeth?

Can there be congenital absences of all or some of theteeth?

Congenital: It is usually the condition of genetic issue. Mostly happened on the lateral incisors and bicuspids, rarely absence of all teeth. ...Read more

See 2 more doctor answers
6

6
What congenital disease causes organs to be deattached from the body?

What congenital disease causes organs to be  deattached from the body?

Confusing question: There is a process where the stomach & intestines do not completely enter the abdomen from their formation area in the embryonic sac. This is called gastroschesis. I no of no other entity where this description would apply. If you are thinking of something else please be more specific of the organs involved. ...Read more

7

7
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

8

8
Is lymphangioma congenital ?

Is lymphangioma congenital
?

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

See 1 more doctor answer
9

9
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

10

10
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

See 1 more doctor answer
11

11
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

12

12
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

13

13
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

14

14
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

15

15
What is congenital fusion of the spinous process?

What is congenital fusion of the spinous process?

Unusual: Its an unusual defect ...means that the top portions of the vertebrae are connected.. not of any concern unless interferes with motion (flexion/extension) Hope this helps Dr Z ...Read more

16

16
Are most babies with congenital deformities aborted?

Are most babies with congenital deformities aborted?

Actually...: ...Most severely malformed babies are miscarried rather than aborted on purpose. They usually die in utero before maturity. As for elective abortion, it is a deeply personal, difficult decision. I would hesitate to say that "most" babies found to be deformed on prenatal tests are aborted, but it is certainly an option many consider. ...Read more

17

17
I was wondering what are congenital metabolic errors?

I was wondering what are congenital metabolic errors?

Errors in code: We are born with detailed information in our dna (genes) that direct the formation of the specific protein, fat and sugar structures needed for our body to function. If/when there is a mutation in the genes, that information can be changed to the point it will not work. The enzymes or co factors are lost and the system breaks down.There are thousands of these potential errors, pku is a common one. ...Read more

18

18
What is leber's congenital amaurosis? What causes it?

What is leber's congenital amaurosis? What causes it?

Rare retinal disease: This is a rare disorder of the retina that occurs a few times in 100,000 births, associated with abnormal eye movements , far sightedness, severe vision problems from birth, and light sensitivity. It's exact cause is unknown, and is one of the most common causes of blindness in children ...Read more

19

19
Should I remove a cateract after 50 years (congenital)?

Should I remove a cateract after 50 years (congenital)?

It depends: Age of cataract is not as important as vision loss and potential vision improvement. If your cataract has caused worse vision over the last few months or years then it is appropriate to have it removed. If the vision in that eye was never great and does not seem much different, there may not be a benefit in removing it. Speak to your eye doctor and have a thorough examination before deciding. ...Read more

See 1 more doctor answer
20

20
Could you explain what is leber's congenital amaurosis?

Could you explain what is leber's congenital amaurosis?

Genetic eye problem: A rare congenital eye disorder that affects one in 80, 000. Affected infants are often blind at birth. Other symptoms may include crossed eyes (strabismus); rapid, involuntary eye movements (nystagmus); unusual sensitivity to light (photophobia); clouding of the lenses of the eyes (cataracts); and/or a cone shape to the front of the eye (keratoconus). Inherited as an autosomal recessive condition. ...Read more