Disease Information for Kenny-Caffey syndrome/KCS (1q42-q43)

Gene locus 1q42-q43; Synonyms of Kenny Caffey Syndrome; Dwarfism, Cortical Thickening of the Tubular Bones & Transient Hypocalcemia; Kenny Disease; Kenny Syndrome; Medullary Stenosis, Congenital ; Tubular Stenosis, Kenny Type ; KCS2; Kenny-Caffey Syndrome, Dominant Type; Kenny-Caffey Syndrome, Recessive Type ; Kenny-Caffey syndrome 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 Kenny-Caffey syndrome is short stature; Mental abilities are rarely affected; Individuals with Kenny-Caffey syndrome 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, Kenny-Caffey syndrome is inherited as an autosomal dominant trait; Other cases are inherited as an autosomal recessive trait; (NORD rare disease org reference 2005)------------------------------------------------

Kenny"s syndrome

Also known as: Kenny-Caffey syndrome, Kenny-Linarelli syndrome,Dwarfism-congenital medullary stenosis syndrome, dwarfism-tubular bone stenosis, tubular stenosis-hypocalcaemia-convulsions-dwarfism syndrome, tubular stenosis-periodic hypocalcaemia syndrome, and tubular stenosis with hypocalcaemia ;

A hereditary skeletal dysplasia of proportionate dwarfism with characteristic inner cortical thickening and stenosis of the medullary cavities of the tubular bones; Both sexes with equal severity; Onset a few days after birth; Marked by tetanic convulsions, delayed physical development, small face, frontal bossing, large anterior fontanelle, episodes of hypocalcaemic tetany, hyperphosphataemia; Sometimes associated with ocular signs; Activity and intelligence normal; Autosomal dominant inheritance suggested

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