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

Opitz BBB/G Syndrome

What is Opitz BBB/G Syndrome?

Opitz G/BBB Syndrome is a genetic disorder caracterized by wide-spaced eyes; and breathing problems and difficulty swallowing.

 

Opitz G/BBB Syndrome is a genetic disorder caracterized by wide-spaced eyes; and breathing problems and difficulty swallowing.
Acknowledgement of Opitz BBB/G Syndrome has not been added yet.
3.0http://www.orpha.net
Synonyms for Opitz BBB/G Syndrome has not been added yet.
Cause of Opitz BBB/G Syndrome has not been added yet.
Symptoms for Opitz BBB/G Syndrome has not been added yet.
Diagnosis of Opitz BBB/G Syndrome has not been added yet.
Diagnostic tests of Opitz BBB/G Syndrome has not been added yet
Treatments of Opitz BBB/G Syndrome has not been added yet.
Prognosis of Opitz BBB/G Syndrome has not been added yet.
Tips or Suggestions of Opitz BBB/G Syndrome has not been added yet.
References of Opitz BBB/G Syndrome has not been added yet.
Newly Diagnosed son with Opitz Syndrome Created by angelgirl41886
Last updated 29 Aug 2011, 01:07 PM

Posted by angelgirl41886
29 Aug 2011, 01:07 PM

My son who is 27 months was just recently diagnosed with opitz syndrome this has been a very rocky road for us he has been sick ever since he was born but only had a some of the symptoms of opitz so it was left undiagnosed instead we were sent to multiple specialists who kept telling us nothing was wrong with him and kept putting us through multiple experimental procedures to rule out other things.. I am sharing my story to see if anyone else can help me cope with his diagnosis because his doctors were unable to give us alot of information about his syndrome. He currently has a feeding tube in his stomach and has therapists coming to the home that are helping him. I am just so overwhelmed right now and im hoping our story may help others. Thank you, Crystal Hutchins

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

My son was just recently diagnosed with opitz gbbb syndrome with M1D1 mutations. He is currently 27 months and has struggled with health issues since he was born, we have seen multiple specialists...
My 4 year old son was diagnosed with 22q11.2 microduplication when he was 19 months old. His symptoms seem mild compared to other described cases; however, his early years have been a challenge for...
I have two kids and one on the way and a fiance who we where told have optiz g/bbb duplication and kallman syndrome and many more possibile.

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

Newly Diagnosed son with Opitz Syndrome

Created by angelgirl41886 | Last updated 29 Aug 2011, 01:07 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.