Neurofibromatosis

[|Neurofibromatosis] -- becca

//**TYPE 1**// //**TYPE 2**// **TYPE 1** **Signs include:** **Tests may include:** **TYPE 2** **Signs include:** **Tests may include:**
 * The chromosome on which the gene associated with the disorder is located on: **Chromosome 22**
 * Manner of inheritance (autosomal dominant…) or type of mutation**: It is a mutation of a gene**
 * A description of the phenotype (the symptoms associated with the disorder):
 * **Freckles in the underarm or groin**
 * **Cafe-au-lait spots- coffee colored spots on skin**
 * **Convulsions**
 * **Uncontrolled tissue growth along nerves(tumors)**
 * **Blindness[[image:scsgenetics/NF_pictures.jpg width="123" height="169" align="right"]]**
 * **Unable to balance easily**
 * **Cataracts at a young age**
 * **Changes in vision**
 * **Cafe-au-lait spots marks on the skin**
 * **Weakness in the face**
 * **Headaches**
 * **Loss of hearing**
 * **Ringing in the ears**
 * Groups most affected (males, Eastern Europeans, fathers over age 50, etc.):**It can affect anyone with the mutation of the gene and it is normally discovered in someone by the age of 20**
 * Diagnosis and testing (what tests would a doctor do to determine if someone has this disorder or what types of screening are available?:
 * **Fracture of the long bones of the leg in early childhood(Medline Plus)**
 * **Large tumors under the skin –these can affect the shape and apply pressure on surrounding nerves or organs**
 * **Colored, raised spots on the colored part of the eye**
 * **Freckling in the armpits, groin, or underneath the breast in women**
 * **Learning disorders**
 * **Many soft tumors on the skin or within the body**
 * **Genetic tests to find a mutation in the neurofibromin gene**
 * **MRI of the affected site**
 * **Eye exam by an ophthalmologist familiar with NF1**
 * **Tests of any other problem the patient may be having**
 * **Brain and spinal tumors**
 * **Hearing-related tumors**
 * **Skin tumors (Medline Plus)**
 * **Medical history**
 * **MRI**
 * **Genetic testing**
 * **Physical examination (Medline Plu**s)
 * Management of the disorder (treatments available): **No Cure, but NF1 it can be treated with surgury, radiation, and genetic counseling. NF2 also has no cure but they should be evaluated by having regular MRI's of the brain and spinal cord, hearing and speech evaluation, and eye exams with an eye doctor familuar with NF.**
 * Outlook for those affected (can people live a normal life with treatment, is it always fatal, etc.):**Yes if treated people can live, but there is often pain and struggles involved.**

[] images provided by google

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