Microsomia hemifacial radial defects
Alternate names[edit | edit source]
Hemifacial microsomia with radial defects; Goldenhar syndrome with ipsilateral radial defect; Oculoauriculovertebral spectrum with radial defect; OAVS with radial defect; Moeschler Clarren syndrome
Definition[edit | edit source]
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.
NIH genetic and rare disease info[edit source]
Microsomia hemifacial radial defects is a rare disease.
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