Cookies help us deliver our services. By using our services, you agree to our use of cookies. Learn more

Johanson-Blizzard Syndrome

What is Johanson-Blizzard Syndrome?

Johanson-Blizzard syndrome is a rare disorder characterized by abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure.

 

Johanson-Blizzard syndrome is a rare disorder characterized by abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure.
Acknowledgement of Johanson-Blizzard Syndrome has not been added yet.
Prevalence Information of Johanson-Blizzard Syndrome has not been added yet.
Synonyms for Johanson-Blizzard Syndrome has not been added yet.
Cause of Johanson-Blizzard Syndrome has not been added yet.
Symptoms for Johanson-Blizzard Syndrome has not been added yet.
Diagnosis of Johanson-Blizzard Syndrome has not been added yet.
Diagnostic tests of Johanson-Blizzard Syndrome has not been added yet
Treatments of Johanson-Blizzard Syndrome has not been added yet.
Prognosis of Johanson-Blizzard Syndrome has not been added yet.
Tips or Suggestions of Johanson-Blizzard Syndrome has not been added yet.
References of Johanson-Blizzard Syndrome has not been added yet.
Johanson-Blizzard Created by loriem
Last updated 29 Sep 2010, 10:51 PM

Posted by loriem
29 Sep 2010, 10:51 PM

Thanks April, I will look you up. I've scheduled an appointment with the GI Dr at SLC and will ask for a referral to a geneticist. I too want to know what the potential problems we may have in the future.

Posted by c3flynn
29 Sep 2010, 03:47 PM

I am on the facebook JBS page. Send me a friend request. You can find me on the wall, my daughter is Cassidy, my name is April Flynn. Let me know if you can't find me. I would strongly urge you to find a geneticist in your area. Preferably one at a large university or teaching hospital. It took almost 5 years and more doctors than I can count to get a diagnosis. Now that we know what she has we know what the potential complications are and we can be proactive instead of just treating symptoms (which is what we were doing before). For example, the geneticist found the hemihypertrophy. That is a key finding because hemihypertrophy is often associated with particularly nasty tumors (Wilm's tumors). Cass was in the ER about a week ago and when the pediatrician heard hemihypertriophy, his first words were has she been checked for Wilm's tumors. So some of this might not seem important, but ultimately is. To give you a frame of reference, Cassidy's geneticist graduated in 1964, is a resident at Children's Hospital in Boston and on staff at Harvard. That is 46 years of practicing medicine. When I asked him point blank about the statistical occurrence he told me that Cassidy is only the second patient he has ever seen with JBS. Seeing the GI doctor is a good start, but a competent experienced genetics doctor will know what to look for and help you be an advocate for your daughter.

Posted by loriem
24 Sep 2010, 12:48 PM

No, we have not seen a geneticist. Like I said, she is otherwise healthy. X-ray reports were not good. Missing lots of random teeth, but it kind of confirms the diagnosis for us. We will see her GI Dr in a couple of months. He maintains that we just treat her symptoms as they come up I posted a note on a JBS facebook page a few months back but never heard back. Thanks for sharing your story with me.

View Full Thread (5 more posts)
Community Resources
Title Description Date Link

Clinical Trials


Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

Community Leaders

 

Expert Questions

Ask a question

Community User List


Start a Community


Don't See Your Condition On Rareshare?

Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.

FAQ


Have questions about rareshare?

Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.

Discussion Forum

Johanson-Blizzard

Created by loriem | Last updated 29 Sep 2010, 10:51 PM


Communities

Our Communities

Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.

FIND YOUR COMMUNITY
Physicians

Our Resources

Our rare disease resources include e-books and podcasts

VIEW OUR EBOOKS

LISTEN TO OUR PODCASTS

VIEW OUR GUIDES

Leaders

Our Community Leaders

Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.