Warburg Micro syndrome is a rare autosomal
recessive syndrome characterized by microcephaly, microphthalmia, microcornia,
congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus
callosum hypoplasia, severe mental retardation, spastic diplegia, and
hypogonadism.
Apart from the ocular signs, the dysmorphic features
can be subtle or even unapparent immediately after birth.
It is important to highlight that Warburg micro
syndrome is a genetically heterogeneous condition: WARBM2 is caused by mutation
in the RAB3GAP2 gene and WARBM3 is caused by mutation in the RAB18 gene. Of
note, Warburg micro syndrome needs to be differentiated from
cerebro-oculo-facio-skeletal syndrome (COFS; ERCC6 gene mutations), CAMFAK
(OMIM 212540, no identified gene yet), Smith-Lemli-Opitz syndrome (DHCR7 gene
mutations) and Martsolf syndrome (also caused by RAB3GAP2 gene mutations).
