#14
LMBBS, also known as Laurence-Moon-Bardet-Biedl Syndrome is a disorder discovered by the four doctors listed within the name. The four doctors discovered that five chromosomes, 15, 11, 3, 16 and 20 play a role in this disorder, but it is unknown how.
The symptoms of LMBBS can be primary and secondary. Some primary symptoms of this disorder are; extra fingers and/or toes, obesity, visual imparment, kidney abnormalities. Secondary symptoms for this disorder include; poor coordination, speech problems, diabetes, and delayed development.
Although most of the diagnosis are made at birth, some babies do not show symptoms of this disorder until later on in their lifetime. Every 1 in 100,000 babies are born with this disorder. To be diagnosed, the patient should have either 4 primary symptoms, or three primary symptoms as well as two secondary symptoms, this is because there is no real way to test for this disorder.
Because LMBBS comes with multiple different symptoms, it is mainly a focoused method of treatment. For example, if a child with LMBBS is obese; blind, has two extra fingers, type 2 diabetes and speech problems, the treatment would be based on their wieght, and mantaining their diabetes, helping them learn to cope with poor vision, and their developmental issues.
Although LMBBS is rare, it is still a very diffuclt disorder to have because of all the many symptoms it can cause. Unlike other disorders, LMBBS cases are all different in severity and symptoms with all children who are diagnosed.
References:
Kugler, Mary, (December 23, 2007). Laurence-Moon-Bardet-Biedl Syndrome retrieved May 12, 2010 from About.com website: www.rarediseases.about.com
The Laurence-Moon Bardet-Biedl Family Network,retrieved from: www.mlmorris.com
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#10
ReplyDeleteinteresting post,
Sad to say I've never heard of this genetic disorder before. Its hard to believe that a syndrome like this can be unnoticed by the public. Important facts are well stated throughout the post about what the symptoms, what causes them and the many different cases of LMBBS. I thought it was kinda sad that there is so many problems associated with this syndrome. You referenced well, maybe could have researched more to maybe show an individual case but is still very good.
Additional Questions
What genetic birth Syndromes can be compared to LMBBS in that they cause many symptoms?
Is there any famous cases of this syndrome?