/autosomal recessive Kenny-Caffey syndrome

autosomal recessive Kenny-Caffey syndrome

Rare Disease

MONDO:0009486

Also Known As

Kenny-Caffey syndrome type 1Kenny-Caffey syndrome, autosomal recessiveKCS1KcsKenny-Caffey syndrome, type 1

Definition

An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.