/Opitz G/BBB syndrome

Opitz G/BBB syndrome

Rare Disease

MONDO:0017138

Also Known As

Opitz G syndromeOpitz G/BBB syndromeOpitz GBBB syndromeOpitz syndromeOpitz-Frias syndromeOpitz-GBBB syndromehypertelorism-oesophageal abnormality-hypospadias syndromehypospadias-dysphagia syndromehypospadias-hypertelorism syndromeBBB syndromeG syndromeGBBB syndromeOpitz BBBG syndromeOpitz-G syndrome, type 2hypertelorism hypospadias syndromehypertelorism with esophageal abnormality and hypospadiashypospadias-dysphagia, syndrometelecanthus with associated abnormalities

Definition

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).