ORPHA:97685
17q11 microdeletion syndrome
Also called Del(17)(q11), Monosomy 17q11, NF1 microdeletion syndrome, Neurofibromatosis type 1 microdeletion syndrome
- Body system
- Skin diseases
- Inheritance pattern
- Not applicable
- Typical age of onset
- Antenatal, Infancy, Neonatal
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
About this disease
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.
Definition from Orphanet.
Common signs
- Reduced social responsiveness
- Short attention span
- Freckling
- Multiple cafe-au-lait spots
- Abnormality of the face
- Progressive visual loss
Learn more
Source: Orphanet (Orphadata), ORPHA:97685. Data release 2026-06-23. www.orphadata.com — CC BY 4.0.