Macrostomia-preauricular tags-external ophthalmoplegia syndrome
A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour preauricular tags or pits and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum a developmental disorder affecting the structures derived from the first and second branchial arches.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version November 2023
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Macrostomia-preauricular tags-external ophthalmoplegia syndrome?
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