Pitt-Hopkins Syndrome is a very rare genetic disorder characterized mainly by psychomotor delay and in some individuals periods of apnea and/or seizures.
|Wide mouth||Wide mouth|
|Hyperventilation and apnea||Intermittent hyperventilation followed by apnea|
|Mental retardation||Mental retardation|
|Distinctive facial features||Distinctive facial features|
Does anyone have abnormal 2q32.1 or 2p16 along with cntnap2 or tapvr
Hi Sue, Thanks for posting this! Feel free to contribute to the Site where you see fit. Also, you can post any valuable links under the "Disorder Resources" section of the community. Be sure to let those groups know about this site as well. We're continuing to get the word out and we appreciate any help from our members. :-) David
Hi Theresa, I just found this site while doing a search to see where our Pitt Hopkin's group was showing up on a google search in Europe. It's great that you were able to put a link back to our group. Do you think different search engines put up different sites? We need to find anything like this and see if we are allowed to put a link on. I noticed Angelman's syndrome has no members here yet. If I had time I'd try to cross reference some groups....well let support groups know that people might be searching here! Sue
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.
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.
Hi I'm a mom to 5 kids and 3 of which have various medical conditions my 6 year old daughter has tapvr mixed and we didn't know at all and she almost passed at birth she's having some...
whose children have been diagnosed. Jack is severely mentally retarded,...
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