oculoauriculovertebral spectrum with radial defects
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.
MONDO:0003847
hereditary disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0018234
dysostosis
is_a
Moeschler Clarren syndrome
related
Moeschler-Clarren syndrome
exact
hemifacial microsomia-radial defects syndrome
exact
microsomia hemifacial radial defects
related
SPAC22F8.10c SPBC29A3.07c