Doctor insights on:
Symptoms Of Congenital Hypertrichosis
Is medication induced hypertrichosis reversible? If yes, how long does it take for the hairs to regress? It has been 5 months thus far. Many thanks.
Yes: When the medication is stopped the hair will get better, and it may take a while. ...Read more
Is medication induced hypertrichosis reversible? If yes, how long does it take for hairs to regress? It's been 5 months- no change. Many thanks.
Perhaps : Usually time is the key. However everyone is different. ...Read more
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
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
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 moreSee 1 more doctor answer
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
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
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
Many: Usually appear early in life and have special x-ray finding and some could sign for other congenital disease.Thanks. ...Read more
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 moreSee 1 more doctor answer
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
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
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 moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
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
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