Table of Contents
KBG Syndrome
Main Features
Eye Findings
Other Findings
Etiology
Resources
KBG Syndrome
Main Features
Dental, Developmental, Skeletal and Craniofacial abnormalities
Eye Findings
Strabismus 22%
Refractive Errors
Astigmatism 27%
Hyperopia 20%
Myopia 15%
Other Findings
Etiology
ANKRD11 mutations or delation of 16q24.3
Resources
Ocular manifestations in a cohort of 43 patients with KBG syndrome. Carter DC et al. Am J Med Genet. 2024;194A:e63473
syndrome