16p13.11 Duplication Syndrome is a rare disorder characterized by behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.
Hello I have just recently found out my 7 yr old son has 16p13.11 diagnosis, I have information about him and would love to compare note, he also has a diagnosis of short stature and he is currently on growth hormones, he sees a child therapist he is very emotionally unstable, they are going to start testing him for other pycosocial disorders. he has two birth defects, Ventricular megaly and no primary teeth for his bottom two teeth, he is a very loving child he is just highly emotional.
Hi! I'm Holly. Our daughter, Autumn,age 4 1/2, was diagnosed a couple of years ago. The lack of case studies is frustrating. We have very little information to help us know what to expect. So far, she has been seen by specialists for orthopedics, urology, cardiology, neuro, hearing & something else, but I can't remember. She was seen by genetics once, for diagnosis, but hasn't been seen by them since. She is very tiny. We celebrated this spring when she finally made it onto the growth chart for height. lol Until then, she was always -3 to -5% for height. :-) She is in special ed. & gets speech therapy, pt & ot. I wish I had more info on the actual genetics to give you an outlook, but her geneticist had only one other case study for comparison. There isn't much to go on.
Hi, we have a 4 year old daughter Dollee who was diagnosed 2 years ago. We are really interested in comparing notes for want of a better word. We are really struggling with getting information about it and the effects both physically and mentally. I'm Toni and Simon is my other half. Dollee is the baby of 7, 5 girls and 2 boy's. We are really hoping to hear from you soon x
hwagon and blazingcolty, I have a daughter and grandson with this disorder. I am also a member of a support group for this disorder. If you would like to contact me to learn more, you can email me at: firstname.lastname@example.org. For email topic, please type "16p" so I will know it is important in case it ends up in my spam.
I just learned about this site from my son's doctor. We live on Long Island in NY. Would love to talk to someone else with this issue.
Hi! I requested this community be started for those of us whose children have been diagnosed with 16p13.11 partial duplication. I have yet to connect with other parents & would love to chat about our incredible kids!
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.
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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.
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