Table of Contents
Opitz Syndrome
Main Features
Eye Findings
Other Findings
Etiology
Reference
Opitz Syndrome
AKA. Oculi-genito-laryngeal syndrome, BBB/G compound syndrome
Main Features
Defects in midline structures
Telecanthus (wide spaced eyes)
Hypospadius
Cleft lip or palate (25%)
Eye Findings
Telecanthus / Hypertelorism
Strabimus (exotropia more likely)
Anisometropia
Other Findings
Prominent forehead
Small Jaw
Ear abnormalities
Laryngotracheaoesophageal malformations
Congenital heart defects
Brain Malformations
Etiology
Chromosome 22q11.2 deletion
MID1 gene defect
X-linked
Reference
OMIM reference
Gene Reviews
syndrome