Terminology Service for NFDI4Health

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. [ ]

Term info

Label

oculoauriculovertebral spectrum with radial defects

Synonyms
  • Moeschler-Clarren syndrome
  • hemifacial microsomia-radial defects syndrome
database cross reference
Subsets

ordo_malformation_syndrome

exactMatch

http://identifiers.org/snomedct/726722009, http://purl.obolibrary.org/obo/Orphanet_2549, https://omim.org/entry/141400

has related synonym

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

id

MONDO:0007712

narrowMatch

https://icd.codes/icd10cm/Q75.8