Kenny-Caffey Syndrome -CEW

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======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====
  * [[https://pmc.ncbi.nlm.nih.gov/articles/PMC10438882/|Expanding the Phenotypic Spectrum of Kenny–Caffey Syndrome Schigt. H et al. J Clin Endocrinol Metab. 2023 Mar 14;108(9):e754–e76]]

{{tag>syndrome}}

syndrome