What is Marfan Syndrome?
'''Marfan Syndrome''' is a [[genetic disorder]] that causes defective [[connective tissue]]. This can effect the [[skeleton]], [[heart]] [[blood vessel]]s, [[eye]]s and [[lung]]s. Normally, the [[interstitial space]] of body [[tissue]] is full of [[microfibrils]].<ref>{{Cite journal|last=Thomson|first=Jennifer|last2=Singh|first2=Mukti|last3=Eckersley|first3=Alexander|last4=Cain|first4=Stuart A|last5=Sherratt|first5=Michael J|last6=Baldock|first6=Clair|date=2019 May|title=Fibrillin microfibrils and elastic fibre proteins: Functional interactions and extracellular regulation of growth factors|url=https://pmc.ncbi.nlm.nih.gov/articles/PMC6461133/|journal=Seminars in Cell & Developmental Biology|language=en|volume=89|doi=10.1016/j.}}</ref> This is strong [[rope]] like structure that provide tissue integrity and common connective tissue. The main component of microfibrils is a [[glycoprotein]] called [[fibrillin]]. Approximately 1 in 5000 individuals is affected by Marfan syndrome. Around 75% of those with the condition inherit it from a parent. However, in some cases, Marfan syndrome occurs in someone with no family history of the disorder, which is referred to as a spontaneous mutation.<ref>{{Cite web|title=Marfan Syndrome|url=https://marfan.org/conditions/marfan-syndrome/|access-date=2025-01-08|website=Marfan Foundation|language=en-US}}</ref> == References == {{reflist}} {{med-stub}} [[Category:Genetic disorders]]