Neurofibromatosis By: Renita and Nick

  1. The gene on chromosome 17 has the genetic abnormality.
  2. The genetic abnormality that's responsible for the disorder is caused by a mutation in or a deletion of the NF1 gene.
  3. Physical Characteristics Include:

Soft bumps on or under the skin

Bone Deformities

.

Tumor on the optic nerve

Learning disabilities

Larger than average head size.

Short stature

The order is diagnosed by X-rays, CT scans or MRIs can help identify bone abnormalities, tumors in the brain or spinal cord, and very small tumors. An MRI might be used to help identify optic gliomas.

People with this condition are born with one mutated copy of the NF1 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent.

Made with Adobe Slate

Make your words and images move.

Get Slate

Report Abuse

If you feel that this video content violates the Adobe Terms of Use, you may report this content by filling out this quick form.

To report a Copyright Violation, please follow Section 17 in the Terms of Use.