ARACHNODACTYLY (Marfan’s Syndrome)
Definition
Marfan’s Syndrome, also known as Arachnodactyly, is an inherited connective tissue disorder that affects the body’s cardiovascular, skeletal, and ocular systems. In particular, it causes long and thin extremities, long digits, and loose joints. It is inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the condition.
History
The condition was first described in 1896 by Antoine Marfan, a French pediatrician. He noted the characteristic tall and slender build, long fingers and toes, and hyperextensible joints of the affected individuals. In the 1960s, it was determined that Marfan’s Syndrome is caused by a mutation in the gene Fibrillin-1, which is responsible for producing the connective tissue protein fibrillin.
Conclusion
Marfan’s Syndrome is a connective tissue disorder that affects multiple systems in the body. It is inherited in an autosomal dominant pattern and is caused by a mutation in the gene Fibrillin-1. Early diagnosis and treatment can reduce the risk of complications and improve the quality of life for those affected by the condition.
References
Marfan Syndrome. (2020). National Institutes of Health. Retrieved from https://ghr.nlm.nih.gov/condition/marfan-syndrome
Brown, E. M., & Ho, T. Y. (2012). Marfan Syndrome. In GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1272/
Loeys, B. L., Dietz, H. C., Braverman, A. C., Callewaert, B. L., De Backer, J., Devereux, R. B., … & Pyeritz, R. E. (2010). The revised Ghent nosology for the Marfan syndrome. The American journal of medical genetics. Part A, 152(4), 1043-1048. Retrieved from https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.33543