Marfan Syndrome

Marfan Syndrome is a genetic disorder of human connective tissue. Most

individuals with this condition are easily identified since they grow to aboveaverage height. Some develop disproportionately long, slender limbs
(medically termed as arachnodactyly) with thin, weak wrists (due to
inappropriate connective tissue development) and long fingers and toes. In
general, Marfan Syndrome affects almost all the anatomical systems of the
human body.
This disorder is caused by mutations in the chromosomes (specifically the
FBN1 gene on chromosome 15; which is responsible for encoding of fibrillin1, a protein that plays a vital role in connective tissue development). Due to
this mutation, growth in several body systems are inconsistent and
inappropriate, causing the abnormal development of the patient.
This specific disorder interests me because there really are physical
deformities associated with it. It is very intriguing when I come across
someone with abnormally long limbs. Also, based on my reading, Marfan
Syndrome does not have a cure, although there are different modalities as to
managing the signs and symptoms of the disease. I only hope that even if a
cure is far from being discovered, patients will have better chances of having
a long life expectancy through improvements in medical research.