macrostomia-preauricular tags-external ophthalmoplegia syndrome
Findings
No curated finding names macrostomia-preauricular tags-external ophthalmoplegia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant.
Definition from the Mondo Disease Ontology (MONDO:0019387), read 2026-09-29. CC BY 4.0.
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of mouth shapeHPOHP:0011338
- Frequent (30% to 79% of cases)
- OphthalmoplegiaHPOHP:0000602
- Frequent (30% to 79% of cases)
- Preauricular pitHPOHP:0004467
- Frequent (30% to 79% of cases)
- Preauricular skin tagHPOHP:0000384
- Frequent (30% to 79% of cases)
- PtosisHPOHP:0000508
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Occasional (5% to 29% of cases)
- Underdeveloped tragusHPO