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

18P Syndrome

What is 18P Syndrome?

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.

 

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.
Acknowledgement of 18P Syndrome has not been added yet.
Prevalence Information of 18P Syndrome has not been added yet.
Synonyms for 18P Syndrome has not been added yet.
Cause of 18P Syndrome has not been added yet.
Symptoms for 18P Syndrome has not been added yet.
Diagnosis of 18P Syndrome has not been added yet.
Diagnostic tests of 18P Syndrome has not been added yet
Treatments of 18P Syndrome has not been added yet.
Prognosis of 18P Syndrome has not been added yet.
Tips or Suggestions of 18P Syndrome has not been added yet.
References of 18P Syndrome has not been added yet.
18P deletion Created by carebear
Last updated 15 Oct 2012, 01:50 PM

Posted by carebear
15 Oct 2012, 01:50 PM

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.

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

Hi everyone I have a son who is now 15months old and has 18p deletion. I have two older sons from a previous relationship who are healthy. My son with the 18p deletion has got a condition called...
Brother assisting with living conditions of afflicted individual living in cleveland ohio
I am a stay at home mom to Katelyn and we live in Austin, TX with her dad. Katelyn was diagnosed via amniocentesis with 18P Syndrome, a rare chromosome disorder. Many of the groups I've looked at...

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

18P deletion

Created by carebear | Last updated 15 Oct 2012, 01:50 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.