Macrostomia-preauricular tags-external ophthalmoplegia syndrome
ORPHA:83619· ICD-10 Q87.0
Definition
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal