Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
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.
This condition has no sub-types.