imperforate oropharynx-costo vetebral anomalies syndrome
Findings
No curated finding names imperforate oropharynx-costo vetebral anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.
Definition from the Mondo Disease Ontology (MONDO:0017162), read 2026-09-29. CC BY 4.0.
Features
27 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.
- Abnormal lip morphologyHPOHP:0000159
- Very frequent (80% to 99% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Very frequent (80% to 99% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Very frequent (80% to 99% of cases)
- Abnormality of the mouthHPOHP:0000153
- Very frequent (80% to 99% of cases)
- Abnormality of the pharynxHPOHP:0000600
- Very frequent (80% to 99% of cases)
- Abnormality of the philtrumHPOHP:0000288
- Very frequent (80% to 99% of cases)
Show the remaining 15
- Respiratory distressHPOHP:0002098
- Very frequent (80% to 99% of cases)
- Respiratory failureHPOHP:0002878
- Very frequent (80% to 99% of cases)
- Abnormal antitragus morphologyHPOHP:0009896
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the tongueHPOHP:0010295
- Frequent (30% to 79% of cases)
- ArachnodactylyHPOHP:0001166
- Frequent (30% to 79% of cases)
- Choanal atresiaHPOHP:0000453
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: imperforate oropharynx-costo vetebral anomalies syndrome
- Also called
- Seghers syndrome