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Up to: Hereditary disease · Syndromic disease · Multiple congenital anomalies/dysmorphic syndrome-intellectual disability · Telecanthus

Opitz G/BBB syndrome

Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS).

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