Kenny-Caffey syndrome 1

Kenny-Caffey syndrome 12016-11-26T13:37:20+00:00

Kenny-Caffey syndrome 1

GENETICS, ORTHOPAEDICS

An autosomal recessive condition (OMIM:244460) characterised by marked growth retardation, craniofacial anomalies, small hands and feet, hypocalcemia, hypoparathyroidism, radiologic evidence of cortical thickening of long bones with medullary stenosis, and absent diploic space in the skull; many die in infancy with hypocalcemic convulsions.

It is similar to hypoparathyroidism-retardation-dysmorphism syndrome with the additional findings of osteosclerosis and recurrent bacterial infections.

Molecular pathology Defects of TBCE, which encodes cofactor E, a protein involved in ensuring that beta-tubulin is correctly folded, cause Kenny-Caffey syndrome 1. 

Synonyms Dwarfism-congenital medullary stenosis syndrome, Kenny syndrome, Kenny-Linarelli syndrome, tubular stenosis-hypocalcemia-convulsions-dwarfism syndrome 

References http://www.uniprot.org/uniprot/Q15813

http://www.omim.org/entry/244460

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