Oculoauriculovertebral spectrum with radial defects

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Synonyms: Hemifacial microsomia-radial defects syndrome | Moeschler-Clarren syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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