Neurofibromatosis type 1
- Type 1 neurofibromatosis
- Recklinghausen's disease
- Von Recklinghausen disease
Other features of NF1 may include:
- Café au lait spots (flat patches on the skin that are darker than the surrounding area)
- Freckling, especially in the underarm and groin
- Lisch nodules (clumps of pigment in the colored part of the eye that do not interfere with vision)
- Learning disabilities
- Autism spectrum disorder
- High blood pressure
- Short stature
- An unusually large head (macrocephaly)
- Skeletal abnormalities such as scoliosis
GeneReview's Web site offers more specific information about the features of NF1. Please click on the link to access this resource.
The Human Phenotype Ontology provides the following list of signs and symptoms for Neurofibromatosis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- JM Friedman, MD, PhD. Neurofibromatosis 1. GeneReviews. September 2014; http://www.ncbi.nlm.nih.gov/books/NBK1109/.
- Bruce R Korf, MD, PhD. Neurofibromatosis type 1 (NF1): Pathogenesis, clinical features, and diagnosis. UpToDate. June 2015; Accessed 7/19/2015.
- David T Hsieh, MD. Neurofibromatosis Type 1. Medscape Reference. December 2014; http://emedicine.medscape.com/article/1177266-overview.