Noonan Syndrom Essay

1049 words - 4 pages

Taylor JohnstonFebruary 17, 2014Mr. Powley, 1st HourHonors BiologyNoonan SyndromeGenetic disorders is when a disease or disorder is inherited genetically. There are millions of diseases and disorders that are caused by the inheritance of certain genes. One of the many is Noonan Syndrome. This syndrome causes defects in the genes that cause them to produce proteins that are continually active. The genes play a role in the formation of many tissues throughout the body, the constant activation of proteins disrupts the normal process of cell growth and division. Noonan syndrome prevents the normal development in many different parts of the body. A person can be affected in a number of different ways. Noonan syndrome, like most other genetic disorders is caused by a genetic mutation and is acquired when a child inherits a copy of an affected gene from one of its parents. This genetic disorder can also occur as a spontaneous mutation, meaning that no family history would be involved. Although there is no specific treatment for the syndrome there is management for controlling the numerous symptoms and complications.Noonan Syndrome affects many areas of the body causing short stature, heart defects, bleeding problems, and skeletal malformation. A person that has Noonan syndrome will have distinctive facial features, including a deep grove in the area between the nose and mouth, widely spread eyes that are usually pale blue or blue green in color, and low set ears that are rotated backwards. They also may have a high arch in the roof of their mouth, poor alignment of the teeth, and a small lower jaw; also known as microganthia. Another symptom that can occur is pectus excavatum and pectus carinatum or having a sunken or protruding chest. Heart defects include pulmonary valve stenosis; when the outflow of blood from the right ventricle of the heart is obstructed at the level of the pulmonic valve, results in the reduction of flow of blood to the lungs. Pulmonary valve stenosis is the most common heart defect for the syndrome. Another heart defect that is common is hypertrophic cardiomyopathy. Bleeding disorders for the syndrome include excessive bruising, nose bleeds, prolonged bleeding following a surgery or injury, and in females excessive bleeding during menstruation and child birth.Other complications due to the syndrome can occur. Males with the syndrome will most likely have delayed puberty, having it start between the ages of 13 and 14. This will happen do to undescended testicles. Women will have a normal puberty. Males compared to women are also more likely to be infertile. Most children with the disorder will have normal intelligence. Only a small percentage will have educational needs and some will have an intellectual disability. Many children will have a short neck and both children and adults many have access neck skin and a low hair line on the back of the neck. Many people may have some kind of vision or hearing problems. Infants can be...

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