oculoauriculovertebral spectrum with radial defects
Go to external page http://purl.obolibrary.org/obo/MONDO_0007712
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. [ Orphanet:2549 ]
Synonyms: Moeschler-Clarren syndrome hemifacial microsomia-radial defects syndrome
Term information
- GARD:3653 (MONDO:GARD)
- UMLS:C0220681 (MONDO:equivalentTo)
- SCTID:726722009 (MONDO:equivalentTo)
- OMIM:141400 (Orphanet:2549/e)
- Orphanet:2549 (OMIM:141400)
- MEDGEN:67392 (MONDO:equivalentTo)
gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare
https://github.com/monarch-initiative/mondo/issues/6877
https://github.com/monarch-initiative/mondo/issues/6751
http://identifiers.org/snomedct/726722009
http://www.orpha.net/ORDO/Orphanet_2549
http://linkedlifedata.com/resource/umls/id/C0220681
https://omim.org/entry/141400
http://identifiers.org/medgen/67392
Moeschler Clarren syndrome
Goldenhar syndrome with ipsilateral radial defect
Oavs with radial defect
microsomia hemifacial radial defects
hemifacial microsomia with radial defects
oculoauriculovertebral spectrum with radial defect