3p25 Deletion Syndrome is a rare chromosomal disorder characterized by mental retardation, growth retardation, hypotonia, microcephaly, ptosis, and micrognathia.
Hi, my currently 7-month-old baby girl has a small deletion of 3p25.3 as well as a large deletion of 3p26.3-p26.1. Her features currently include feeding difficulties (slow eater with small/erratic appetite, reflux); some hypotonia in the neck area (affecting eating, head control for gross motor skills, and communication); and developmental delay. In terms of delay, she has sometimes rolled over by herself in her crib at night, but she cannot or will not bear weight on her arms to "push up." Her head control is still iffy at times. She has always HATED tummy time--screamed bloody murder and cried real tears--in any format, even on our chests or laps. As a result, she has developed some plagiocephaly and will wear a helmet for awhile. She has only just started to babble a little bit, usually saying "oo-la" or "ma-ma." She also has milk protein intolerance, although I'm not sure if that's really a result of the deletion as it is not mentioned in Rarechromo.org's brochure. She was born with a very small omphalocele and VSD, but these were ultimately of no long-term concern. She has an anomaly of her left optical nerve, but the neuro-ophthalmologist considers it to just be an anomaly so far and nothing of consequence; her vision is good for now. I am still waiting to see the geneticist, neurologist, and audiologist. She is currently receiving physical therapy and speech therapy and being monitored by a gastroenterologist and dietitian as well.
I am wishing you all the best on this difficult journey. Feel free to message me at any time.
Hi guys It seams that this deletion's symptoms is really random and it's Diff. With every child I got a lot of info from from rarechromo .org Unique You can follow them in twitter or you can email them and they will connect you with other families with the same deletion But like I said it varies some kids severely affected and some has few difficulties My son is definitely have a sensory disfunction Also farsighted and he had a tosis ( droopy eye lid ) fixed by operation He will be 3 years old doesn't walk but he crawls suffers from low muscle tone especially in his legs has a very poor balance I hope he'll walk soon with physiotherapy He doesn't talk or make signs or anything Just crys or makes strange sounds if he sees me He doesn't eat by himself doesn't chew only eats with spoon I hope I could help but as you can see I don't have answers Time will only show me how far can he get I have no expectation but I wish him the best and I will never lose hope I wish you the best it's a hard life Stay strong : )
I would love too answer any questions. I am on Facebook and YouTube I have made videos of my boy if you want to take a look. I think he has sensory issues but the medical people take forever here. He also dosent talk but uses some signs. If u want to talk more search my name on you tube. Andrea
Andrea, my name is Amanda. My daughter Kylie has 3p25 deletion and I have been trying to get your info from unique. I have been watching your YouTube videos and it seems that your son and my daughter have many of the same affects from the deletion and I would love to talk to you. Hope to hear from you! Sincerely, Amanda
Hello my name is Andrea. I have 3 children my middle boy Has 3P25.3 intersial denovo deletion. I have been on the Unique website I was tiold about this one so I thought I would come and check it out.
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.
Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.
Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.
Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.FIND YOUR COMMUNITY
Our rare disease resources include e-books and podcasts
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.