It has been postulated that<unk>  arises as a result of interference with postnatal eye growth, in contrast to anophthalmia which originates much earlier during fetal development. Genetic causes of<unk>  include chromosomal abnormalities (e.g. Patau syndrome, mosaic trisomy 9, 13q deletion syndrome, Wolf–Hirschhorn syndrome) or monogenetic Mendelian disorders (e.g. CHARGE syndrome, Fraser syndrome, oculofaciocardiodental syndrome, Lenz<unk>  syndrome).<unk>  in newborns is sometimes associated with fetal alcohol spectrum disorder or infections during pregnancy, particularly herpes simplex virus, rubella and cytomegalovirus (CMV), but the evidence is inconclusive. The following genes, many of which are transcription and regulatory factors, have been implicated in<unk> , anophthalmia, and coloboma: SOX2 has been implicated in a substantial number (10-15%) of cases and in many other cases failure to develop the ocular lens often results in<unk> .<unk> -associated transcription factor <unk> , located on chromosome 14q32, is associated with one form of isolated<unk>  (MCOP1). In mammals, the failure of expression of<unk>  in the retinal pigment epithelium prevents this structure from fully differentiating, causing a malformation of the choroid fissure of the eye and drainage of vitreous body fluid. Without this fluid, the eye fails to enlarge, resulting in<unk> . Waardenburg syndrome type 2 in humans may also be caused by mutations in<unk>  The human<unk>  gene is homologous to the mouse<unk>  gene (gene symbol mi); mouse with mutations in this gene are hypopigmented in their fur. The identification of the genetics of WS type 2 owes a lot to observations of phenotypes of<unk> -mutant mice.
Microphthalmia
Xanthochromia
Macular hypoplasia
Macrodontia 
Macrotia
Anisochromia
Xerophthalmia
Blue nails