Treacher Collins

Treacher Collins

Treacher Collins

Treacher Collins Syndrome (or TCS) is a birth defect that gives a person major facial issues and hearing loss. It is a recessive, autosomal disease formed by damage to chromosome 5. It is passed down from parent to child. If neither parent had the disease but the child has it, that means there was a change in the genetic material during conception. If one parent has it, there is a 50% chance of the child inheriting the disease, and a 50% chance the child will be a carrier. People with this syndrome have oddly shaped ears, eyelids, cheekbones, and upper and lower jaws. Cleft palate tends to be very common. People with this disease usually have small noses and mouths, so they may have breathing problems. Most people have some type of speech and/or ear trouble they should get help for. There is no way to completely cure this disease but facial reconstruction surgery and continuous hearing checks are recommended. People with this disease can lead almost completely normal lives with proper treatment.



Neurofibromatosis

Neurofibromatosis

Neurofibromatosis

Neurofibromatosis is a disorder involving large bumps in the skin. These bumps many times are tumors that can become cancerous. Not much is known about this disorder. There are two types of Neurofibromatosis, NF1 and NF2. NF1 is more common than NF2. Both are caused 50% of the time by a change in chromosome 17 and a 50% cause from a spontaneous genetic mutation of unknown causes. It is an autosomal, recessive disease. NF1 is first seen around ages of high growth, generally about age ten. Some strange freckle spots show up around the armpits. People with the disease usually have heart defects and learning disabilities. They are generally shorter than average and have other diseases like scoliosis. The main issue is the many cosmetic and psychological problems that go with the disease. NF2 is more rare and deals more with eye trouble. It is caused by a problem in chromosome 22 as far as scientists can tell, but they are confused and still researching this type of Neurofibromatosis. There is no real cure for the disease except to get rid of any tumors that are found.

About Me

My name is Virginia. I live in Georgia. I am a freshman at Peachtree Ridge High school.

Thursday, November 11, 2010

Neurofibromatosis

  • What is the age group is affected in your disorder?
about 10 years old-death
  • What race or ethnic group is affected in your disorder?
All people but usually in shorter people
  • What is the frequency (how many people are affected) of your disorder?
NF1- 1 in 2,500-3,000
NF2- 1 in 50,000-120,000
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