auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
Findings
No curated finding names auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0019178), read 2026-09-29. CC BY 4.0.
Features
22 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.
- Incomplete cleft of the upper lipHPOHP:0011340
- Very frequent (80% to 99% of cases)
- Orofacial cleftHPOHP:0000202
- Very frequent (80% to 99% of cases)
- Abnormal optic nerve morphologyHPOHP:0000587
- Frequent (30% to 79% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Frequent (30% to 79% of cases)
- Cervical ribsHPOHP:0000891
- Frequent (30% to 79% of cases)
- Deep philtrumHPOHP:0002002
- Frequent (30% to 79% of cases)
- Depressed nasal ridge
Show the remaining 10
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- MyopiaHPOHP:0000545
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- Pectus excavatumHPOHP:0000767
- Frequent (30% to 79% of cases)
- Periauricular skin pitsHPOHP:0100277
- Frequent (30% to 79% of cases)