Von Hippel-Lindau Syndrome Research Paper

5. What is the prevalence and prognosis of this condition? Is it an inheritable (genetic) condition/disease? (1 point)

As mentioned above this disease affects three areas of the brain; the language (difficulty with

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

What parts of the body does it affect? How common is it? Are there multiple forms/causes for developing the condition? How long can an individual survive?

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

According to the National Hemophilia Foundation (.n d.), people with VWD experience recurrent nosebleeds, easy bruising and extreme bleeding for the duration of and after invasive procedures, such as tooth removals and surgery. Women often experience menorrhagia, heavy menstrual periods that last lengthier than usual, and hemorrhaging after giving birth. The signs and symptoms depends on the severity of the disease.

Genetic disorders come in various forms. Some can be caused by mutations of the genes or chromosomes while others can be caused by a process called nondisjunction. Nondisjunction occurs when chromosomes during meiosis do not separate correctly and the daughter cells receive too much or too little genetic information. Klinefelter's is caused by nondisjunction which results in an extra X chromosome being present in a male.

There is no cure for these syndromes. Treatment will first focus on treating whatever cancer you have. Then, treatment will focus on helping your immune system lower its response to the tumor. This may be done with:

Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter syndrome is a common genetic condition affecting only males. It mostly affects testicular growth, and this can result in smaller than normal testicles. This can lead to lower production of the sex hormone testosterone. Klinefelter syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. The effects of Klinefelter syndrome affect every person differently, and not everyone with it develops the same signs and symptoms. Klinefelter syndrome often isn't diagnosed until adulthood. Most men with Klinefelter syndrome produce little or no sperm. But assisted reproductive procedures

Many people affected by Klinefelter syndrome are at high risk of many different health issues, but if these risks can be reduced if signs are caught and treated early. High risk autoimmune disorders, which are disorders in which the immune cells attack the body, include rheumatoid arthritis, hypothyroidisms, lupus, and type 1 diabetes. High risk venous diseases include varicose veins, deep vein thrombosis, and pulmonary embolisms. Since affected males have such a high risk of these venous diseases, they should pay close attention to their weight, follow an adequate diet, avoid smoking, and exercise regularly. Tooth decay is a problem with Klinefelter-affected males since they usually have taurodontism, which is when teeth have shorter roots,

Loeys-Dietz Syndrome (LDS) is a genetic disorder that affects connective tissue in the body. To tell if someone has Loeys-Dietz syndrome, you can most likely see; widening or dilation of arteries, twisting or spiraled arties, widely spaced eyes, and spilt or broad uvula. Although, these are the main characteristics of Loeys-Dietz, not all patients suffer from all of these syndromes. LSD can also affect the bones, blood vessels, skin, and/ or organs. Other characteristics include: aortic aneurysm which is when the main blood vein has abnormal swelling, joints are flexible, possible scoliosis, etc. LSD affects each person differently and can only be passed down from a family member. Sadly, people who suffer from

The cause of the disorder is being born with three copies of chromosome 18 but you normally would have two copies. One symptom of my disorder is Atrial Septal Defects, these defects are the two top chambers of your heart having a hole in them. Another symptom is Cachexia this is losing muscle mass gradually. Camptodactyly and deviation of the fingers which makes them deformed. Cognitive impairment is a decline of aging, memory, judgment and more. They also have facial deformities. One facial deformity hypertelorism is having skin folds in the corner of your eyes.

The tests that are done check for developmental delays, small head size and flatness on the back of the head. If the disease is found in someone there is no cure for it. Researchers are focusing on how to treat the specific gene. There isn’t a lot that you can do for the disease, but you can do some treatments that can help with symptoms. Some people have to take anti-seizure medication. Others go to communication, behavior and physical therapy to help with walking or balance issues. Seizures are recurrent in people that have Angelman Syndrome and those reoccurring seizures can make their symptoms

Von Willebrand disease (VWD) is a bleeding disorder that affects your blood's ability to clot. Von Willebrand disease occurs equally among men and women, affecting up to 1% of the general population. However, women are more likely to experience symptoms of Von Willebrand Disease because of the increased bleeding it can cause during the women’s menstrual periods, pregnancy, and after childbirth. (CDC, 2014).

A genetic disorder, such as DiGeorge syndrome, is an illness caused by one or more abnormalities, which can be passed down through parents, DNA, or mutations. DiGeorge syndrome (DGS) is a rare type of a genetic disorder which is caused by the deletion of chromosome 22. DiGeorge syndrome affects many parts of the body and has a prevalence of 1: 4000