Macrostomia-preauricular tags-external ophthalmoplegia syndrome

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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 Data version June 2024

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Macrostomia-preauricular tags-external ophthalmoplegia syndrome?

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