Okihiro syndrome
ORPHA:93293· ICD-10 Q87.8
Definition
A rare multiple congenital anomalies syndrome characterized by the association of uni- or bilateral radial defects, uni- or bilateral Duane anomaly (congenital limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure), renal abnormalities, sensorineural and/or conductive hearing loss, and, less frequently, imperforate anus and scoliosis.
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal