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Start free with Eleplan17q11 microdeletion syndrome
ORPHA:97685Clinical subtype
Also called Del(17)(q11) · Monosomy 17q11 · NF1 microdeletion syndrome · Neurofibromatosis type 1 microdeletion syndrome
What it is
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.
Key facts
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Not applicable
- Classified as
- Clinical 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
Very common80–99%
4Common30–79%
21- Abnormal facial shape
- Abnormal heart morphology
- Abnormality of central motor function
- Abnormality of the face
- Atypical behavior
- Beaking of vertebral bodies T12-L3
- Brain imaging abnormality
- Headache
- Hypertension
- Language impairment
- Lisch nodules
- Memory impairment
- Migraine
- Nevus anemicus
- Papule
- Plexiform neurofibroma
- Progressive visual loss
- Sleep abnormality
- Specific learning disability
- Telangiectasia of the skin
- Thickened skin
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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