Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome

This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.

Epidemiology

So far, it has been described in only one family.

Etiology

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.

Genetic counseling

Transmission is autosomal dominant.