Macrostomia-preauricular tags-external ophthalmoplegia syndrome

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.

Disease data

Classification

Malformation syndrome

ORPHA code

83619

OMIM code

ICD10 code

Q87.0

ICD11 code

*Soruce