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CCA life expectancy

Ekaterina
0 Recommendations

Hello!

My name is Kate, i am 28 years old. I have a problems of information because i am from Russia were genetics is an exclusive specialization.

I want to know about genetic differences between Marfan syndrome and CCA.

My elder son has a Beals- Hecht Syndrome - he is 9 y.o.. Moscow expert of genetic says that it was a new mutation. But, unfortunately, my second child (2 months) has this syndrome too. Both children have heart defects and others visual mutations. Crushed ears, long hands and feet, spidery fingers.

I read many information about this syndrome - now I doubt fidelity of the diagnosis....

A have some questions: both children do not have problems with eyes - will be they appear late ? Scoliosis - increase or decrease? Contracture forecast?

And do you now anything about life expectancies?

I will be grateful for any information.

Explore topics in this discussion:

Surgery Scoliosis Rare diseases Marfan syndrome Hecht syndrome

7 replies

foreverinbluejeans

Your English is very good!

This website is for people with rare diseases. There may not be anyone here with your sons' conditions.

I recommend you do some research on your own. The website eMedicine is a good place to start and it is easy to understand most of the information. The Mayo Clinic may have information, it is a famous research and treatment group of hospitals.
You can try going to google.com and typing in groups of words to get the information you are looking for.

I am a breastfeeding educator. Your baby will benefit from breastfeeding the longer you keep breastfeeding. Breastfeeding improves brain development, vision and other development and helps keep the baby healthy.

I hope you can find the information you are looking for.

Ekaterina

Dear foreverinbluejeans !
Thank you for answered! I’ll try to looking for more information in web. As far as I know CCA is a very rare disease, like tel-hashomer syndrome with analog markers. Thanks a lot for recomendations.

Adwyer

Hi Kate,
Your first question is about the genetics of Marfans the FBN1 and TGFBR2 are the genes are mutated. Beals is located on FBN2 gene. The best article I found was:
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1524931

This article seems to answer most of the questions you have had.
My question you might know is: Since this is tissue connectivity mutation what is causing the contractures? Is there connective tissue in the joint preventing flexion or have the bone grown too long and muscle/tendon is preventing flexion?

Thanks,
Aleck

Ekaterina

Hi Aleck!
At first thank you very much for links. I read a lot of information about CCA. Berlins genetic - dr. Peter Robinson tolled to me, that "Life expectancy and intelligence are normal with Beals Hecht syndrome".
About your question: as far as i know contractures depends on shortening of a muscular which will be better with the years. Both of syndromes more terrible about the scoliosis or problems with bones. Without modern methods of diagnostics, patients with CCA would look like as usual, high, inconsistent people. The key points are: heart defects - in Beals syndrome more less vs. Marfan, eyes - not so damaged as in Marfan, and scoliosis. If you have a special medical questions I will give you email of doctor Peter Robinson from Berlin.
best wishes, Kate

Adwyer

Hi Kate,
This is my thought I would like you and your doctor to consider. In contractures it appears that skeletal long bones are outgrowing the maximum stretch length of the muscles. If I understand contractures correctly then something to think about would be cut a small section of bone to shorten the shaft of the long bones. After cutting out the section put the ends of the bone together and let them heal like a shortened broken leg. This might allow him to full extend the joint because the muscle is not overstretched.
This seemed to me to be an easy solution to the problem of contractures. Is this a reasonable thought?
Thanks,
Aleck

Ekaterina

Contractures is lung in this syndrome. Not dangerous. The scoliosis is realy dangerous and will progresses, unlike contractures which not stir to live. My elder son as an example. :) Big broblem for me is absence of professionals or genetic in Russia.

aimzy

Hi,
I have beals (it was considered mild). I have very severe scoliosis, camptodactyly(hands), aractodactyly(feet). mild vision problems and slight hearing problems. They have ruled the heart condition out for me as fatal but I get scans every few years. I was diagnosed at 16 for beals and between 8-14 yrs old for the other bone conditions. 10 years ago I was told there are only about 100 in the world with it diagnosed. I have struggled to find much on it. (link below on what I have found), Each individual condition is treated as needed. I have just had surgery on my hand for it (contracting) and later this year will have my second spine surgery.
I am about to have my children genetically tested to ensure they dont have the heart condition as I was told if they have it they will need surgery around age 10 as the life expectancy was about 18 without it.

http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cca

http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1524931

http://www.googlesyndicatedsearch.com/u/uthsch?q=beals&Search.x=3&Search.y= 8

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