- The gene on chromosome 17 has the genetic abnormality.
- The genetic abnormality that's responsible for the disorder is caused by a mutation in or a deletion of the NF1 gene.
- Physical Characteristics Include:
Soft bumps on or under the skin
Tumor on the optic nerve
Larger than average head size.
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.