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