Russel Silver Dwarfism????

anonymous

New member
Hi!
I have noticed some of you on this forum have children with Russel Silver Dwarfism (I hope I spelled it right) as well as CF. I hope you don't mind me asking a few questions? What is this? Is it commonly paired with CF? What are the symptoms? Is it also genetic? How do you know if someone has it?

Thanks,
Lynsey- mom to Avery (2 yrs w/CF) and Rhett (7mos. w/o CF)
 
Russell-Silver Dwarfism has nothing to do with CF. It is just like any other form of dwarfism. My son was born with it, and he was diagnosed about 2 months after he was diagnosed with CF. It is genetic. This particular type of dwarfism comes from the number 7 chromosome. That is also the chromosome that CF comes from. In order for someone to have CF they have to get a CF mutated gene from their mother and their father. In my son's case, his father is not a carrier. When my egg formed, it formed incorrectly. I am a carrier of CF. Instead of my chromosomes copying and splitting with 1 good-1 bad and 1-good-1 bad, it split with 1 good-1 good and 1 bad-1 bad. So the egg that is now my son was the egg with the 2 bad chromosomes. So then, when it joined with the sperm, the 2 bads should have split again, but they didn't. They stayed together. So then the fertilized egg had 3 number 7 chromosomes. It knew that it was incorrect and tried to fix itself. Only instead of "kicking out" the extra number 7 from me, it "kicked out" the number 7 from the father. So that left my son with two number 7s that are identicle, both just happening to have the mutated CF gene, giving him CF. Due to the two number 7s from me, which is called Uniparental Disomy, he also has Russell-Silver syndrome. His genetics doctor says that most pregnancys will abort themselves when they aren't right, but in this case, it didn't. She also says that to her knowledge, my son is only the 3rd confirmed case EVER, of someone having UPD #7 with 2 CF mutated genes. So, no, it does not go with CF, but the 1st case ever was actually how they first discovered the CF gene. It's very complex, and very VERY rare. The symptoms, if you can call them that, are, triangular shaped face, short stature, low birth weight without catch up growth, sever feeding problems, ie- failure to thrive, reflux, and oral aversions. If you go to google images and type in Russell Silver syndrome, it will bring up a lot of pictures of children with it. My son looks just like them. There is a list of all the symptoms, and how one gets this. I hope this answers your questions.
 

anonymous

New member
Hi Jennifer,
I hope I didn't offend you by asking these questions. I appreciate your response. My daughter is in an awkward stage right now, physically. She is very short, yet chubby. Her head is large and her face seems small. I wasn't sure if she might have the disease as well. I did some research myself on the internet but couldn't find any photos. After your response and going to the site you suggested, I don't think she does. Thank you for the information.
Take Care,
Lynsey -mom to Avery 2yrs w/Cf and Rhett 7mos no CF
 
No problem. I am glad that I could help clear up your questions. All the kids with RSS have a very distinct look. I personally think they are very cute.
 
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