DIAGNOSTIC CRITERIA FOR NF1
Two or more of the following:
- Six or more café-au-lait spots 1.5 cm or larger in post-pubertal individuals, 0.5 cm or larger in pre-pubertal individuals
- Two or more neurofibromas of any type or one or more plexiform neurofibroma
- Freckling in the axilla or groin
- Optic glioma (tumor of the optic pathway)
- Two or more Lisch nodules (benign iris hamartomas)
- A distinctive bony lesion: dysplasia of the sphenoid bone or dysplasia or thinning of long bone cortex
- A first-degree relative with NF1
Effects of NF-1
Neurofibromatosis type 1 (NF-1) is an autosomal (A chromosome that is not a sex chromosome) dominant genetic disorder that causes tumors to grow on the covering of the nerves anywhere in the body at any time. The disorder affects 1 in 2,500 males and females of all races and ethnic groups. The NF-1 gene is located on chromosome 17.