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Cri-du-Chat Syndrome
a.k.a. 5p Deletion syndrome
Main Features
- High-pitched cat-like cry in infancy
- Intellectual disability / Global developmental delay
- Characteristic craniofacial features
- hypertelorism
- epicanthal folds
- broad nasal bridge
- micrognathia
- rounded face
Figure 1. from Reference 2
Eye Findings
- External
- Hypertelorism
- Epicanthal folds
- Downslanting palpebral fissures
- Ptosis
- Strabismus
- Refractive error
- Peters anomaly
- Epibulbar mermaids/ lipodermoid
Other Findings
- Microcephaly
- Hypotonia
- Congenital heart defects
Etiology
- 5p deletion