Doctor insights on:
Williams Syndrome Rare Diseases
HELP!!! My daughter has two rare diseases. One is Caudal Regression Syndrome which I can find some information about. The other is Bilateral PFFD.
Pffd: Proximal Femoral Focal Defficiency or PFFD is related to caudal regression syndrome.It is the pard of decreased development of the notochord in the lower spine area often associated with folic acid defficiency of in infants of Diabetic mothers have your child tested by orthopedics doctor to check for instability of the hip ...Read more
Neurodevelopmental disorder characterized by loquacious personality, abnormally sensitive hearing, supravalvular aortic stenosis, mental retardation, elfin facies, association with hypercalcemia due to abnormal sensitivity to vitamin d, idiopathic hypercalcemia of pregnancy. Due to deletion in elastin gene and probably several ...Read more
Awful broad spectrum: Worms, parasites, stds or stis, asian bird flu, legionnaire's disease, tuberculosis, food poisoning, or simply the common cold. And lots more. If you think you are sick, see your doctor! it's as simple as that. But let him/her know where you've been; there are cdc bulletins about certain illnesses from certain parts of the world. ...Read more
I know there are thousands of rare diseases but are there any known ones that cause adult height to signif. grow after years of no growth? I'm 39.
That's a strange one: because usually after the ends of the bones fuse in young adulthood, it is not possible for them to lengthen, which is what would be necessary for one to get taller. There is a condition called acromegaly that could cause some bones to get wider, so hands and feet and jaws and forehead can grow. If you are noticing this, you should be checked for pituitary problems. Good luck! ...Read more
Lots : Did you have a specific type in mind? The list is very long. ...Read more
Too general: Please re-ask and be more specific about what you would like to know. For an in-depth discussion consider discussing with your medical provider or asking a provider on Healthtap Prime or Concierge ...Read more
It Depends: It really depends on what kind of rare diseases they have. Pediatric oncologists deal with rare cancers, nephrologists deal with rare kidney diseases, cardiologists deal with rare heart diseases. Geneticists probably see the most patients with rare diseases, but i'm not sure that's what you mean by "deal with". ...Read moreSee 1 more doctor answer
I have Dercums Disease(adiposis delorosa) can you recommend a Dr. in Texas that treats rare diseases such as this?
Internal Medicine: I would contact the Internal Medicine Department of one of the medical schools in Texas. It looks like you are closest to the medical school (Texas Tech University Health Sciences Center School of Medicine) in Lubbock, TX. The number for the Internal Medicine Clinic is 806.743.3150. Best of wishes to you. ...Read more
Depends...: Each subspecialty in pediatrics manages patients with very rare diseases. A partial list of subspecialists includes hematology/oncology, endocrinology, nephrology, neurology, medical genetics, rheumatology, pulmonology, etc. Many of these doctors are found at pediatric academic medical centers. ...Read more
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