Kenny-Caffey syndrome type 1

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Kenny-Caffey syndrome type 1

An autosomal recessive condition (OMIM:244460) characterised by marked growth retardation, craniofacial anomalies, small hands and feet, hypocalcaemia, 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
Caused by defects of TBCE, which encodes chaperone/cofactor E, a protein involved in ensuring that beta-tubulin is correctly folded.