Macrostomia-preauricular tags-external ophthalmoplegia syndrome

Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant.

0 clinical trials for this condition and its sub-types, 0 tagged with Macrostomia-preauricular tags-external ophthalmoplegia syndrome itself.