Neurofibromatosis type 1 (NF-1)
Neurofibromatosis type 1 (NF-1), formerly called von Recklinghausen's Disease or peripheral neurofibromatosis, is thought to occur in 1 of 2,500 births. The gene for NF-1 is on chromosome 17. NF-1 can be characterized by:
- Multiple cafe-au-lait colored spots on skin
- Tumors of varying sizes on or under the skin
- Lisch nodules on the iris of the eyes
- Freckling in the underarm or groin area
- Possible learning disabilities
- Possible bone deformities, including scoliosis
- Possible optic glioma
- Possible family history of NF
- Symptoms sometimes present at birth
