Table of Contents
Main Features
Eye Findings
Other Findings
Etiology
Resources
Kenny-Caffey Syndrome
Main Features
Short stature, hypoparathyroidism, skeletal defects
Eye Findings
Refractive
hyperopia, myopia,astigmatism
Anterior Segment
corneal opacity, keratopathy, cataracts
Posterior Segment
retinopathy, pseudopapilledema and other optic nerve anomalies, glaucoma, tortuous retinal vessels
Globe: Microphthalmia
Vision: Amblyopia
Strabismus
Other Findings
Intellectual disability
Chronic kidney disease
Etiology
Tubulin-specific chaperone E gene (TBCE)- KCS1
111 member A gene (FAM111A)- KCS2
Resources
Expanding the Phenotypic Spectrum of Kenny–Caffey Syndrome Schigt. H et al. J Clin Endocrinol Metab. 2023 Mar 14;108(9):e754–e76
syndrome