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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.
ORPHA:139450Classification level: Disorder
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.