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Doctor insights on: Williams Syndrome Rare Diseases

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HELP!!! My daughter has two rare diseases. One is Caudal Regression Syndrome which I can find some information about. The other is Bilateral PFFD.

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

Dr. Fred McCurdy
63 doctors shared insights

Williams Syndrome (Definition)

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


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What are some weird/rare diseases that can happen to regular college kids in the u.S.?

What are some weird/rare diseases that can happen to regular college kids in the u.S.?

Meningitis: Meningitis, mononucleosis, stds and hpv. Meningococcemia can kill more rapidly than any other disease. It is spread from breathing it in, especially in crowded conditions like dormitories. Most incoming freshman are now vaccinated (starting at age 11) but often healthy teens are overlooked if they don't have regular physicals. It is preventable as are stds and hpv. Mono is just plain weird. ...Read more

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Need expert help here. What are rare diseases that deals with muscles?

Need expert help here. What are rare diseases that deals with muscles?

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

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I have Dercums Disease(adiposis delorosa) can you recommend a Dr. in Texas that treats rare diseases such as this?

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

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What are some rare diseases I could have picked up on trip to singapore?

What are some rare diseases I could have picked up on trip to singapore?

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

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What kind of doctors specialize in children with rare diseases?

What kind of  doctors  specialize in children with rare diseases?

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 more

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I need to know who are the doctors that specializes in children with rare diseases?

I need to know who are the doctors that specializes in children with rare diseases?

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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Can there be a job out there which actually studies rare diseases?

Can there be a job out there which actually studies rare diseases?

Are you interested i: What is your interest? Do you need to apply for this job or need info about a rare disease? Please be clear in asking your question, so that we can give you a useful answer.. ...Read more