Gearing up to see the geneticist tomorrow and I've been doing some of my own research on Chromosome 7. As I was looking through all the syndromes and disorders that are associated with a deletion in genes within Chromosome 7, I realized that I needed to have a list of all of Emily's symptoms in front of me to compare and contrast with what I am seeing in all these articles. So here it goes:
1. Large head
2. Prominent forehead
3. Elfin-like ears (yes this is a symptom present in alot of these syndromes!)
4. Enlarged genitalia as well as pubic hair
5. Low muscle tone in hands and feet
6. Speech delays
7. Learning disabilities
8. Slow physical development
9. Behaviors (really...it's a symptom!)
10. Sensory Processing Disorder (not a symptom per se, just something else we're dealing with)
That's everything I can think of at the moment. I know this helps me...to see everything together in one list!
Oh and OF COURSE...11. Cyst on her pituitary gland!
Wednesday, October 20, 2010
Symptoms
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2 comments:
Good luck at the doctor tomorrow! Those are some interesting symptoms that you can have by the deletion of chromozone (sp?) 7. I hope all goes well!
I was reading about it as well after reading your post. Did you know there is a "Williams syndrom" associated with the deletion of part of chromosome 7?
Anyway, good luck at the doctors today! We will be praying for you!
Love you guys!!!!
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