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macrostomia-preauricular tags-external ophthalmoplegia syndrome

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0019387:  macrostomia-preauricular tags-external ophthalmoplegia syndrome
Orphanet:83619: 
UMLS:CN206081: