Doctor insights on:
Syndrome Will Born
Very rare...: Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. Harlequin ichthyosis is very rare; its exact incidence is unknown. Mutations in the abca12 gene cause this disease. The abca12 gene provides instructions for making a protein that is essential for normal skin development. ...Read more
I have 2 kids one has a major heart defect and has aspergers syndrome. My other was born 100% healthy.What are my odds of having another healthy baby?
It Depends: There may be more factors to consider before arriving at reasonably predictable odds. I suggest, you seek out a medical geneticist for your best answer. There are dna tests needed along with a precise history from both sides of the family; then the odds can be calculated. It would, in my opinion, be unethical to give you the answer you want without having much more data. Good luck. ...Read moreSee 1 more doctor answer
What to do if i think my boyfriend has short gut syndrome because of being born with his intestines on the outside?
Intestine function?: Short gut usually refers to the length of intestine, but it can also refer to cases in which intestine function is not normal. We now use the term "intestine failure" because some patients with short gut have normal function. If your boyfriend can maintain his weight and hydration and nutrition status, and doesn't have excessive diarrhea, he should be fine. If not, he may require further testing. ...Read more
My 3 yr old daughter was diagnosed with short bowel syndrome when she was born. She has been pooping on her self lately so what's going on?
See your doc!: This sort of thing is unusual. An increase in the number of bowel movements should be investigated further. It can mean that the bowel is not absorbing the food nutrients effectively, and that it is just passing through. Has your child's diet changed? Another cause could be an infection. Ignoring this situation could cause dehydration or irreversible damage, so you really need to see her doctor. ...Read more
If I play tennis once and get an overuse injury can it cause the thoracic outlet syndrome or are you born with it?
No: Thoracic outlet syndrome is generally not an 'overuse' injury but can symptoms can be initiated by athletic or work endeavors , etc.In my orthopedic practice TOS is most often caused by a 'cervical rib' or other anatomic variant.See an experienced ORS for examination, Xrays, . Best of Luck!! ...Read more
Why is sirenomelia (mermaid syndrome) fatal? Virtually all babies born with it die within hours of birth. Why is this?
Extra chromosome 21: A woman's chances of giving birth to a child with down syndrome increase with age because older eggs have a greater risk of improper chromosome division. By age 35, a woman's risk of conceiving a child with down syndrome is 1 in 400. By age 45, the risk is 1 in 35. However, most children with down syndrome are actually born to women under age 35 because younger women have far more babies. ...Read moreSee 1 more doctor answer
Several possible: The features of down syndrome are dependent on the addition of one extra segment of a 21 chromosome which is more likely as women age .You can get this several ways. The traditional DS (~95%) has 3 copies of a 21 chromosome. About 4% have the specific extra 21 piece stuck on a regular chromosome (trans-location).About 1% have a mosaic of some normal and some 21 trisomy in variable amounts. ...Read moreSee 2 more doctor answers
Brugada Syndrome: There are different types of Brugada Syndrome, although all types lead to similar electrical disturbances in the heart. SOME are inherited and familial, whereas other types are not and are caused by structural abnormalities of the heart, certain medications, cocaine, and rarely severe electrolyte disturbances. Talk to cardiologist or electrophysiologist about your type and possible cause. ...Read more
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