Marfan Essay essays

Marfan Essay essays In 1896 the French pediatrician Antonin Marfan first characterized and named the disease Marfans Syndrome, also known as Arachnodatyly an MFS. In the past many have suffered, even died due to the lack of knowledge held by the medical profession pertaining to complicated diseases such as this. However there has been a large improvement in scientific research and focus on the identification and treatment of Marfans Syndrome. Unfortunately it has remained highly unknown and misinterpreted by the public. Marfans Syndrome can be clearly defined as the weakening or poor development of connective tissue located in various areas of the body. In 1991 a defected chromosome15 was identified as the cause of Marfans Syndrome. The mutations occur in the FBNI gene, a component of connective tissue and producer of the protein fibrillin. Fibrillin 1 is important to the encoding and forming of elastic fibers that make up connective tissue. The mutations affect the quality and amount of fibrillin deposited in the connective tissue. Marfans Syndrome can only be inherited from a parent caring a copy of the altered gene. A parent with the disease has a 50% probability of passing it to their child. After two unaffected offspring the chances of inheritance decrease to 1/10,000. In the United States today approximately 200,000 have Marfans Syndrome or a related syndrome. Marfans Syndrome is a rare and unique disorder that varies in severity. The simplest signs to recognize are those that disfigure the appearance. A person born with the disease may develop disproportionate limbs, be tall in stature, have unusually flexible joints, a narrow face, crowded teeth, and a high roofed mouth. Dislocation of the ocular lenses occurs in half of all cases. The more severe problems occur in the skeletal structure, lungs and cardiovascular system. An odd shaped chest know as Pectus D ...