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Noonan Syndrome
Main Features
- Highly variable but most have short stature, mild intellectual disability or developmental delay and
- Characteristic faces
- High forehead
- depressed nasal bridge
- low-set posteriorly rotated ears with fleshy helices
Eye Findings
- Refractive Errors: Myopia, hyperopia and astigmatism
- Ptosis
- Hypertelorism
- Downslanting palpebral fissures
- epicanthal folds
- Keratoconus
- vivid blue or blue-green iris
- Posterior embryotoxin
- cataract
- Strabismus
- nystagmus
- optic nerve hypoplasia
- optic nerve coloboma