Table 2

"The face often predicts the brain" [5, 110]. Parallelism of face and brain phenotypes generally observed in HPE.

Group
Morphology
HPE degree

(I) Cyclopia
Single or double eye
Proboscis
Alobar
(II) Ethmocephaly
Distinct sockets
Extreme ocular hypotelorism
Proboscis
Alobar
(III) Cebocephaly
Ocular hypotelorism
Proboscis, with single nostril
Alobar
(IVA)
Ocular hypotelorism
Midline cleft lip
Flat nose
Alobar
or
Semi-lobar
(IVB)
Ocular hypotelorism
Midline cleft lip (complete or partial)
Flat nose
Semi-lobar
or
lobar

Dubourg et al. Orphanet Journal of Rare Diseases 2007 2:8   doi:10.1186/1750-1172-2-8