Kenny-Caffey Syndrome

Kenny-Caffey Syndrome


Kenny-Caffey syndrome is a genetic disorder that affects the skeleton, head, and eyes. It causes frequent episodes of low blood calcium.


Kenny-Caffey syndrome can manifest in cortical thickening of long bone diaphysis, delayed cranial suture closure, short stature, anemia, calcification of basal ganglia, bilateral microphthalmos, congenital hypoparathyroidism, decreased skull ossification, decreased testicular size, delayed skeletal maturation, hypermetropia, hyperphosphatemia, hypertelorism, hypocalcemic seizures, prominent forehead, retinal calcification.


KCS is autosomal dominant and caused by a mutation in FAM111A gene.



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Last Updated on 14 May 2021