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imperforate oropharynx-costo vetebral anomalies syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

imperforate oropharynx-costo vetebral anomalies syndrome

MONDO:0017162

Also known as:Seghers syndromeimperforate oropharynx-costo vetebral anomaliesimperforate oropharynx-costovertebral anomalies syndrome

Overview

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.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Abnormality of the mouth, Abnormal lip morphology, Abnormality of the philtrum, and Posteriorly rotated ears and others; and common findings: Epicanthus, Overfolded helix, Wide nasal bridge, and Choanal atresia and others.

Organ System	Phenotype Count	Example Features
Lungs and breathing	4	Dyspnea, Respiratory distress, Recurrent respiratory infections

Prognosis

Phenotype severity distribution: 14 very common features, 13 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for imperforate oropharynx-costo vetebral anomalies syndrome.

36 publications have been identified in PubMed for imperforate oropharynx-costo vetebral anomalies syndrome. Research spans Case Report / Case Series (67%), Review / Meta-Analysis (22%), and Basic Science / Preclinical (6%).

Research Type	Count	% of Total
Patient case studies	24	67%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2759

GARD

Genetic and Rare Diseases Info Center

GARD:2989

Questions for Your Care Team

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imperforate oropharynx-costo vetebral anomalies syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

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GARD

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imperforate oropharynx-costo vetebral anomalies syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications