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Start free with EleplanNeurofibromatosis type 1
ORPHA:636Disease
Also called Nonmosaic NF1 · Nonmosaic neurofibromatosis type 1 · Von Recklinghausen disease
What it is
Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.
Key facts
- Prevalence
- 1-5 / 10 000 (Europe)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
15- Abnormality of the nervous system
- Astrocytoma
- Delayed puberty
- Generalized hyperpigmentation
- Intellectual disability, mild
- Lisch nodulesDiagnostic criterion
- Macule
- Melanocytic nevus
- Meningioma
- Multiple cafe-au-lait spotsDiagnostic criterion
- Multiple lipomas
- Neoplasm of the skin
- Plexiform neurofibromaDiagnostic criterion
- Specific learning disability
- Subcutaneous nodule
Common30–79%
20- Abnormality of speech or vocalization
- Abnormality of the eye
- Abnormality of vision
- Ataxia
- Attention deficit hyperactivity disorder
- Axillary frecklingDiagnostic criterion
- Cryptorchidism
- Genu valgum
- Headache
- Hearing abnormality
- Hearing impairment
- Heterochromia iridis
- Inguinal frecklingDiagnostic criterion
- Memory impairment
- Paresthesia
- Proptosis
- Recurrent fractures
- Skeletal dysplasia
- Slender long bone
- Tall stature
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes reported in subtypes
Orphanet records this gene on 2 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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