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NIH GARD Information: Kenny-Caffey syndrome type 2

This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).

Synonyms

  • KCS2
  • Dwarfism, cortical thickening of tubular bones and transient hypocalcemia
  • Kenny-Caffey syndrome, autosomal dominant

Overview

Kenny-Caffey syndrome type 2 is a genetic disorder that affects the skeleton, head, and eyes. It causes frequent episodes of low blood calcium (hypocalcemia). This syndrome is caused by changes (pathogenic variants) in the FAM111A gene and is inherited in an autosomal dominant pattern. Treatment often includes calcium and vitamin D supplements and addressing any medical issues as they occur.[14322][14323]

For more information, visit GARD.

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