This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.
So far, it has been described in only one family.
The phenotype is associated with the presence of five copies of a copy-number-variable region (CNV) localised to 4pter. This is the first example of an amplified CNV being associated with a Mendelian disorder.
Transmission is autosomal dominant.
Last update: May 2008