Reviewer: Deepali Jain, M.D. (see Reviewers page)
Revised: 23 March 2013, last major update January 2013
Copyright: (c) 2003-2013, PathologyOutlines.com, Inc.
- Rare (1 per 100K births) congenital abnormality with one medial eye (either single eye or 2 fused eyeballs) and proboscis (tubular appendage) superior to the orbit
- Incompatible with life
- Most severe facial expression of holoprosencephaly
- Due to impaired midline cleavage of embryonic forebrain causing doubling of intrinsic ocular structures; may be associated with malfunction of sonic hedgehog protein
- Female predominance (58%)
- Associated with trisomy 13, trisomy 18, triploidy; also other chromosomal abnormalities (Am J Med Genet C Semin Med Genet 2011;157C:344)
End of Eye > General > Cyclopia
Single orbit with 2 fused eyes
Trisomy 13 - cyclopia with proboscis
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