Acronym of Cerebello -Ocular -Facio-Genital.

Very rare: described in 5 families with important inbreeding.  Autosomal recessive transmission of a mutation of the MAB21L1 gene (13q13.3). 

Clinical features:

-            facial dysmorphism: coarse features, outward extending flaring eyebrows, synophrys, buphthalmia, anteversed nostrils, long philtrum, broad nose, low hairline with hirsutism

-          corneal dystrophy with horizontal nystagmus; strabismus

-             hairy nipples

-          cerebellar hypoplasia with ataxia, and microcephaly of variable importance 

-          scrotal hypoplasia

Anesthetic implications: 

microcephaly

References : 

-        Kayserili H, Altunoglu U, Yesil G, Rosti RO.
Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdevelopped labioscrotal folds, and small cerebellum in four patients.
Am J Med Genet A 2016 ; 170 : 1391-9.

Updated: June 2019