Macrostomia-preauricular tags-external ophthalmoplegia syndrome

Orpha code: 83619OMIM code:

Definicja

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
Klasyfikacja

Malformation syndrome

Kod ORPHA
83619
Kod OMIM
-
Kod ICD10
Q87.0
Kod ICD11
-

No additional description.

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