Introduction
Kenny-Caffey syndrome is a genetic disorder that affects the skeleton, head, and eyes. It causes frequent episodes of low blood calcium.
Symptoms
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.
Causes
KCS is autosomal dominant and caused by a mutation in FAM111A gene.
Prevalence
1:1’000’000