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oculoauriculovertebral spectrum with radial defects - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oculoauriculovertebral spectrum with radial defects

MONDO:0007712

Also known as:Moeschler-Clarren syndromehemifacial microsomia-radial defects syndromeGoldenhar syndrome with ipsilateral radial defect

Overview

Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.

GeneticsAutosomal dominant

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: Triphalangeal thumb, Preauricular skin tag, Preauricular pit, and Cleft palate and 9 more.

Organ System	Phenotype Count	Example Features
Head and neck	5	Cleft palate, Non-midline cleft of the upper lip, Short mandibular rami

Diagnosis

Biomarker and diagnostic research for oculoauriculovertebral spectrum with radial defects has been reported in the published literature.

Prognosis

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 oculoauriculovertebral spectrum with radial defects.

122 publications have been identified in PubMed for oculoauriculovertebral spectrum with radial defects. Research spans Case Report / Case Series (37%), Basic Science / Preclinical (23%), and Epidemiology / Natural History (12%).

Research Type	Count	% of Total
Patient case studies	39	37%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:141400

Orphanet

European rare disease database

Orphanet:2549

GARD

Genetic and Rare Diseases Info Center

GARD:3653

Questions for Your Care Team

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oculoauriculovertebral spectrum with radial defects

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

oculoauriculovertebral spectrum with radial defects

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications