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Start free with EleplanNeurofibromatosis type 1 due to NF1 mutation or intragenic deletion
ORPHA:363700Etiological subtype
Also called Von Recklinghausen disease due to NF1 mutation or intragenic deletion
What it is
Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Etiological subtype
Recorded for the broader condition
- Prevalence
- 1-5 / 10 000 (Europe)Neurofibromatosis type 1
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Common30–79%
22- Abnormal facial shape
- Abnormal heart morphology
- Abnormality of the skeletal system
- Attention deficit hyperactivity disorder
- Axillary freckling
- Bone cyst
- Brain imaging abnormality
- Broad neck
- Coarse facial features
- Hypotonia
- Inguinal freckling
- Joint hypermobility
- Large hands
- Lisch nodules
- Long foot
- Macrocephaly
- Neurodevelopmental delay
- Proportionate tall stature
- Scoliosis
- Specific learning disability
- Speech articulation difficulties
- Subcutaneous neurofibromas
Sometimes5–29%
26- Abnormality of the dental pulp
- Abnormality of the sphenoid sinus
- Abnormal renal morphology
- Epicanthus
- Facial asymmetry
- Genu valgum
- Global developmental delay
- High palate
and 18 more in this range
Rare1–4%
21- Abnormality of tibia morphology
- Atrial septal defect
- Granuloma
- Headache
- Hemangioma
- Hydrocephalus
- Hydronephrosis
- Hyperlordosis
and 13 more in this range
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.
Gene
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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