Opitz-GBBB syndrome

Also known as Opitz G/BBB syndrome, Telecanthus with associated abnormalities, BBB syndrome, Hypospadias-hypertelorism syndrome, Hypospadias-dysphagia syndrome, Opitz G Syndrome, Opitz syndrome, G syndrome

monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form