loading...| Preferred Name | oculoauriculovertebral spectrum with radial defects | |
| Synonyms |
Goldenhar syndrome with ipsilateral radial defect oculoauriculovertebral spectrum with radial defect Moeschler Clarren syndrome hemifacial microsomia with radial defects microsomia hemifacial radial defects Oavs with radial defect hemifacial microsomia-radial defects syndrome Moeschler-Clarren syndrome |
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| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007712 |
|
| altLabel |
Goldenhar syndrome with ipsilateral radial defect oculoauriculovertebral spectrum with radial defect Moeschler Clarren syndrome hemifacial microsomia with radial defects microsomia hemifacial radial defects Oavs with radial defect hemifacial microsomia-radial defects syndrome Moeschler-Clarren syndrome |
|
| definition |
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. |
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| has_exact_synonym |
hemifacial microsomia-radial defects syndrome Moeschler-Clarren syndrome |
|
| has_related_synonym |
Goldenhar syndrome with ipsilateral radial defect oculoauriculovertebral spectrum with radial defect Moeschler Clarren syndrome hemifacial microsomia with radial defects microsomia hemifacial radial defects Oavs with radial defect |
|
| label |
oculoauriculovertebral spectrum with radial defects |
|
| prefixIRI |
MONDO:0007712 |
|
| prefLabel |
oculoauriculovertebral spectrum with radial defects |
|
| textual definition |
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. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015334 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0007712 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0007712 | MONDO | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_2549 | ORDO | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_2353 | HRDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0007712 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0007712 | MONDO | LOOM |