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Doctor insights on: Symptoms Of Congenital Hypertrichosis

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What are the symptoms of congenital insensitivity to pain?

What are the symptoms of congenital insensitivity to pain?

Pain: Is a rare condition in which the person does not feel physical pain and has a genetic predisposition . Patients can still feel if somebody is touching them and they have no physical abnormalities . Consult with a neurologist for more information ...Read more

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What are common symptoms of congenital insensitivity to pain?

2 types:: There are generally 2 types of non-response exhibited in cip: 1. Insensitivity to pain: painful stimulus is not even perceived: a patient cannot describe the intensity or type of pain. 2. Indifference to pain: a patient can perceive the stimulus, but lacks an appropriate response: they will not flinch or withdraw when exposed to pain. Cognition and sensation are normal! ...Read more

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What are the symptoms of congenital cataracts?

What are the symptoms of congenital cataracts?

Various: Cataract is a generic term for any opacity in the structure of the natural lens. You can be born with anything from trivial opacities to profound deposits. The minor ones frquently do not need anything done and cause no symptoms. The major ones can block vision, cause an eye to turn in or out, and can cause permanent loss of vision. Your pediatric ophthalmologist is an expert at these. ...Read more

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In which subtype of congenital myasthenia do symptoms improve over time?

In which subtype of congenital myasthenia do symptoms improve over time?

Myasthenia gravis: Transient myasthenia of the newborn improves rapidly after birth .It is present in 10-15 percent of babies born with myasthenia and usually clears up. ...Read more

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In congenital syphillis, could symptoms go unnoticed and what would the child's life expectancy be?

In congenital syphillis, could symptoms go unnoticed and what would the child's life expectancy be?

Not unnoticed: The symptoms of congenital syphilis are many and typically do not go unnoticed (especially today). However, with proper treatment, people can live normal (and quite full) lives. Perhaps the most famous person with congenital syphilis was british statesman winston churchill. http://www.nlm.nih.gov/medlineplus/ency/article/001344.htm. ...Read more

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Are congenital disorders of glycosylation progressive disorders with worsening symptoms over time? Is there shortened life expectancy?

Are congenital disorders of glycosylation progressive disorders with worsening symptoms over time? Is there shortened life expectancy?

Yes and yes: This is a very complex topic. There are many different forms of the disease affecting many different genes. I would suggest the following as a nice overview about the disease: http://www.Ncbi.Nlm.Nih.Gov/books/nbk1332/. ...Read more

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What are the symptoms of congenital cataract?

What are the symptoms of congenital cataract?

Maybe none!: Congenital cataracts often have no symptoms. If they are causing problems, vision may be cloudy or fuzzy. Glare can also be a big problem. ...Read more

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So what are the symptoms of congenital malformation?

So what are the symptoms of congenital malformation?

Which one?: There are many different congenital malformations with many different symptoms. ...Read more

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What are possible symptoms to congenital kyphosis?

What are possible symptoms to congenital kyphosis?

Many: Usually appear early in life and have special x-ray finding and some could sign for other congenital disease.Thanks. ...Read more

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What are the real symptoms of congenital toxoplasmosis in fetus?

What are the real symptoms of congenital toxoplasmosis in fetus?

Please see below.: Congenital toxoplasmosis symptoms can range from none to severe, and can be seen anywhere from the first month to later in life. Infected babies can have anemia, low platelets (which can cause easy bleeding or bruising), jaundice, small heads, brain calcifications, seizures, mental retardation, vision loss, or other neurologic problems. ...Read more

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I have congenital stenosis at C2 and C3 could this be come severe later on in life. What are the symptoms of it?

I have congenital stenosis at C2 and C3 could this be come severe later on in life. What are the symptoms of it?

Definitely yes: Longterm issues associated with congenital stenosis are: degenerative disc disease, bone spurs, slipping of one vertebral body on another (subluxation), and further narrowing. Symptoms of these related to cord compression and loss of nerve function: numbness, weakness in the arms/hands, loss of fine motor control. Relief of severe symptoms is via surgical intervention to decompress and fuse.. ...Read more

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My dr said my thoracic syrinx is congenital and idiopathic I have never had symptoms. Is it likely to grow? It worries me. It ws found by accident.

My dr said my thoracic syrinx is congenital and idiopathic I have never had symptoms. Is it likely to grow? It worries me. It ws found by accident.

It may get larger: Yes, the syrinx can get larger with time. If you follow up with doctor and keep them abreast of any changes in how you feel then, they will be able to determine whether or not it is growing and do the appropriate studies to check it out. Otherwise, don't worry, you were born with it....Just be aware of it....Don't be obsessed with it. ...Read more

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What are the symptoms of congenital adrenal hyperplasia?

What are the symptoms of congenital adrenal hyperplasia?

Classic or non?: Classic cah is diagnosed mostly on newborn screening. It results from a block in the synthesis of cortisol and usually also aldosterone. Females will often have ambiguous genitalia. Males don't look different. Permanent replacement with Hydrocortisone & Fludrocortisone (may not need past childhood) are needed for sustaining life and salt balance. Pediatric endocrinologists follow very closely. ...Read more

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I'm concerned. What symptoms go with congenital abnormalities?

I'm concerned. What symptoms go with congenital abnormalities?

It Depends: Congenital abnormality is a very broad and non-specific term. Symptoms will depend on which organs (body parts) are affected. Typically functions of those organs may be affected, sometimes though you may have congenital abnormalities which will be without any symptoms. ...Read more

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What are the symptoms of a congenital heart defect?

What are the symptoms of a congenital heart defect?

They vary widely: A congenital heart defect may be so mild that there are no symptoms during an individual's lifetime. At the other end of the spectrum, there may be severe distress at the time of birth. There are many different types of congenital heart defects and levels of severity such that a description of common symptoms is usually related to a specific defect. ...Read more

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What symptoms make you think of congenital hypothyroidism?

What symptoms make you think of congenital hypothyroidism?

Many: Depends on the age but for infants, they can have puffy face, dull look, thick tongue that sticks out. For toddlers and children, they can have constipation, dry, brittle skin, poor feeding, short height, sleepiness, fatigue, loss of muscle tone (floppy kids), choking epidodes, low hairline...This is a serious disease with serious lifetime consequences. It's easily checked by a blood test. ...Read more

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What are symptoms of congenital adrenal hyperplasia in girls?

What are symptoms of congenital adrenal hyperplasia in girls?

It varies: Persons with the most common form of congenital adrenal hyperplasia (cah) have a predisposition to make extra testosterone. For girls can manifest as genitalia that is "masculinized" before birth and therefore "ambiguous" at birth. Some girls can also have "salt wasting". Girls can also have somewhat masculinized behaviors. Testosterone levels can be lowered by therapy. www.caresfoundation.org. ...Read more