optiz_syndome

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

  • optiz_syndome.txt
  • Last modified: 2022/02/07 20:44
  • by oculoman