Aa
my niece
My niece is 5 years old and she was recently diagnosed with marzan deseased.I would like to know what kind of desease is that and if is dangerous. i would also need to know what ever it is to know about the desease. Thank you very much.
Thank you very much for the information that you send me about the marfan syndrome.now i'll be able to tell my family in Puerto Rico so they can understand and try to relax so they can get togheter as a family we are ,so they can do whats neccesary to help my niece.
magaly flores
magaly flores
Hello maggie439,
The following information would be of help to you.
Marfan syndrome is named after Antoine Marfan, the French pediatrician who first described the condition in 1896 after noticing striking features in a 5 year old girl. Marfan syndrome is caused by mutations in the FBN1 gene on chromosome 15,[9] which encodes a glycoprotein called fibrillin-1, a component of the extracellular matrix. The Fibrillin 1 protein is essential for the proper formation of the extracellular matrix including the biogenesis and maintenance of elastic fibers. The extracellular matrix is critical for both the structural integrity of connective tissue but also serves as a reservoir for growth factors. Marfan syndrome (or Marfan's syndrome) is a genetic disorder of the connective tissue.
It is sometimes inherited as a dominant trait, but can sometimes be a spontaneous mutation. It is carried by a gene called FBN1, which encodes a connective protein called fibrillin-1. People have a pair of FBN1 genes. Because it is dominant, people who have inherited one affected FBN1 gene from either parent will have Marfan's. Parents have a 50/50 chance of passing on the gene to their children.
People with Marfan's are typically tall, with long limbs and long thin fingers.
Refer: http://en.wikipedia.org/wiki/Marfan_syndrome
Best
The following information would be of help to you.
Marfan syndrome is named after Antoine Marfan, the French pediatrician who first described the condition in 1896 after noticing striking features in a 5 year old girl. Marfan syndrome is caused by mutations in the FBN1 gene on chromosome 15,[9] which encodes a glycoprotein called fibrillin-1, a component of the extracellular matrix. The Fibrillin 1 protein is essential for the proper formation of the extracellular matrix including the biogenesis and maintenance of elastic fibers. The extracellular matrix is critical for both the structural integrity of connective tissue but also serves as a reservoir for growth factors. Marfan syndrome (or Marfan's syndrome) is a genetic disorder of the connective tissue.
It is sometimes inherited as a dominant trait, but can sometimes be a spontaneous mutation. It is carried by a gene called FBN1, which encodes a connective protein called fibrillin-1. People have a pair of FBN1 genes. Because it is dominant, people who have inherited one affected FBN1 gene from either parent will have Marfan's. Parents have a 50/50 chance of passing on the gene to their children.
People with Marfan's are typically tall, with long limbs and long thin fingers.
Refer: http://en.wikipedia.org/wiki/Marfan_syndrome
Best
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