NORD gratefully acknowledges Bruce D. Gelb, MD, The Gogel Family Professor of Child Health and Development, Professor of Pediatrics and Genetics & Genomic Sciences, Director, Child Health and Development Institute, Mount Sinai School of Medicine, for assistance in the preparation of this report.
Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare hereditary skeletal disorder characterized by thickening of the long bones, thin marrow cavities in the bones (medullary stenosis), and abnormalities affecting the head and eyes. Most cases are obvious at birth (congenital). The primary outcome of KCS2 is short stature. Intelligence is usually normal. Individuals with KCS may also have recurrent episodes of low levels of calcium in the blood stream (hypocalcemia) that is caused by insufficient production of parathyroid hormones (hypoparathyroidism). In most cases, KCS2 is an autosomal dominant genetic disorder.
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