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Chromosome 11 Disorder-Van Buchem Syndrome 3

Page history last edited by Julie Swihart 14 years, 6 months ago

 

Van Buchem’s Syndrome

 

 

 

Van Buchem's Syndrome, also known as Endosteal Hyperostosis, is an autosomal recessive disorder[1]. This disorder is a result of a missense mutation in the LRP5 (low-density lipoprotein receptor-related protein 5) gene[2]. The syndrome causes an increase in bone mineral density (BMD) specifically in the skull base and cortical thickening of the tubular (long) bones[3][4]. This syndrome is very rare and is not specific to any ethnic group or geographical areas, athough it is most commonly found in in-bred families.

 

Causes 

Missense Mutations

LRP5

Bone Growth

 

Diagnosis 

 

 Effects and Symptoms

 

Treatment

There is currently no treatment for this syndrome since it affects so few people and those patients do not have severe disabilities or life-threatening problems from the disease.

 

 

    *Author's Note: We picked this rare syndrome because in general non-lethal mutations, like Van Buchem's Syndrome, help biologists understand the underlying mechanisms of complex processes, like bone remodeling. This syndrome is interesting because it allow biologists to see that the Wnt pathway controls bone growth. Scientists can use this information to help find treatments for serious diseases like osteoporosis, which affects millions of people.  Scientists can discover molecules that 're-create' the effect of this syndrome. This would help in osteoporosis by re-estabishing the balance between osteoblasts and osteoclasts.[5][6]

 

 

Page Authors: Emmie Ryan and Julie Swihart

 

Footnotes

  1. Plessler, Frank, and David D. Sherry. " Osteopetroses ." Merck Manuals Medical Library. Feb 2008. Merck, Web. 26 Oct 2009. .
  2. Balemans, Wendy, Jean-Pierre Devolgelaer, Erna Cleiren, Elke Piters, and Emanuelle Caussin. "Novel LRP5 Missense Mutation." Journal of Bone and Mineral Research. 22.5 (2007): 1. Print.
  3. Balemans, Wendy, Jean-Pierre Devolgelaer, Erna Cleiren, Elke Piters, and Emanuelle Caussin. "Novel LRP5 Missense Mutation." Journal of Bone and Mineral Research. 22.5 (2007): 1. Print.
  4. "Low-density Lipoprotien Receptor-related Protien 5." UniProt. 13 Oct 2009. Web. 27 Oct 2009. .
  5. Balemans, Wendy, Jean-Pierre Devolgelaer, Erna Cleiren, Elke Piters, and Emanuelle Caussin. "Novel LRP5 Missense Mutation." Journal of Bone and Mineral Research. 22.5 (2007): 1. Print.
  6. Plessler, Frank, and David D. Sherry. " Osteopetroses ." Merck Manuals Medical Library. Feb 2008. Merck, Web. 26 Oct 2009. .

Comments (17)

Matthew Riggen said

at 10:08 am on Oct 29, 2009

Does the person just have stronger bones?

rryoung@... said

at 2:01 pm on Oct 29, 2009

Your secondary pages are good - just make certain to include more in-depth information. Your first page needs a little more pizazz. Use colors, images, and videos to do this.

Andrew Lowhorn said

at 10:14 am on Nov 4, 2009

Very nice scale picture on the Effects and Symptoms page. It really shows how much denser and heavier your bones are with this disorder.

Sarah Lorenz said

at 10:18 am on Nov 4, 2009

That picture of the skulls is almost unbelievable! It's really shocking to actually be able to see the difference between the density of the bones. Try swimming with bones like the ones on the right.

James Berns said

at 10:19 am on Nov 4, 2009

I like the pictures that you on Effects and symptoms page that show the bones and the picture of the lady with the disorder. It really shows a good visual on what it looks like and shows how much your bones are out of wack with this disorder.

William Etienne said

at 10:19 am on Nov 4, 2009

The information is well presented, but I feel like the font makes the information slightly confusing.
Try sticking with a more basic version. (time new roman)

Alexandrea Schwent said

at 10:23 am on Nov 4, 2009

I love the pictures on your Effects page. They really show the problems some individuals could have. I also like the way you had some info, and then the pictures.

Amanda Jones said

at 10:27 am on Nov 4, 2009

Your pages are very well put-together and are easily to navigate through. The pictures were shocking, and brought an emotion appeal to your wiki. The pages and pictures are easy to read, but you still sound good.

Callie Meece said

at 10:29 am on Nov 4, 2009

The opening title made my head hurt, honestly, but after that i really did like the project, especially the little note at the bottom that talked about van Berchem's syndrome and scientific developments that have spawned off of the study this genetic disorder.

Nathan Jeffers said

at 10:17 am on Nov 5, 2009

The scale of the 3 heads weighs less than on Van Buchem head is very interesting on the Effects and Symptoms page. Also the rest of the pictures on that page explain the density difference of a normal bone and a Van Buchem Bone. The front page however, has too much going on with it. It gives me a headache when i look at it.

Joshua Miller said

at 10:23 am on Nov 5, 2009

this is really cool. They probbly couldnt swim... the size of that jaw was insane! pretty acurate information but i had know idea that your ulna and your femur were actually rite next to each other

Tyler Lasky said

at 10:23 am on Nov 5, 2009

The pictures on the symptoms page gave a very good visual representation of the thickening of bones (jaw, ulna, etc). The picture of the patient with the expanded jaw, while being slightly creepy, makes it much easier to comprehend the extent to which the disease can affect a person.

Zachary McCormack said

at 10:29 am on Nov 5, 2009

Good job, and nice pictures. The effects page does a great job of visually showing the symptoms. The first and second pictures do the job nicely. I didn't even know it was possible to have that large of a jaw. It also is fascinating that people with van buchem syndrome can't feel do to nerve entrapment. That would be a very weird experience.

Matthew Riggen said

at 10:43 am on Nov 5, 2009

The images really cleared the disease up for me. If you had done just words, I would've thought that the skeleton was just very, very strong. But since you included the old woman picture and the scale picture, I have a sharper image of Van Buchem Syndrome.

Kaleigh Volpp said

at 10:43 am on Nov 5, 2009

It's nice to know that the diagnosis is as simple as an x-ray, sad to know that there's no treatment. I really like the picture of the skulls on the scale also. It gave me a clear understanding between the density of a normal skull and someone with Van Buchem's Syndrome.

Jacob Halbert said

at 10:44 am on Nov 5, 2009

i thought the pictures on the symptoms page showed very well the symptoms and some of the chracteristics that patients with van buchem syndrome. i thought some of the facts were very interesting about this syndrome such as that this disorder is most commonly found in in-bred families. also i have noticed that most of these disorders are specified with a particular ethnic group and the intro pagecstates that this disorder doesnt occur in one specific ethnic group.

Alysse Gatmaitan said

at 10:58 am on Nov 5, 2009

This wiki definately went into a lot more depth thatn any ohter wiki i have looked at. The large amount of links were very impressive, you included so much information. The authors note on the home page goes into great detail of how research of this disease can help with treatment of other bone diseases like osteoporosis.

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