18P Syndrome is a partial deletion of the small arm of the # 18 chromosome. Children with this disorder are generally very small in stature and will have some level of learning disabilities. There are facial charecteristics such as ptosis of the eyes and many others. A child may have some or none or all of the physical signs of 18P. Every case is unique. Children are prone to auto-immune diseases and deficiencies as well as hearing problems and a high incidence of dental caries. I cannot begin to list all the symptoms.
Hello. My nephew is diagnosed with 18P deletion. He is 3 years old and has a few of the common traits such as short stature, facial features, and delayed speech. I am trying to gain any information or knowledge from families who are dealing with this diagnosis as well. There is so little information on this diagnosis provided on the internet which is quite frustrating. Though 18P is rare there are families affected by it and I am hoping to find those willing to share their story.
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.
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