has characteristic has characteristic has material basis in germline mutation in TBCE Autosomal recessive inheritance autosomal recessive disease autosomal recessive Kenny-Caffey syndrome https://rarediseases.info.nih.gov/diseases/8367/kenny-caffey-syndrome-type-1 https://www.malacards.org/card/kenny_caffey_syndrome_type_1_2 NCIT:C130992 KCS1 DOID:0080722 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. UMLS:C1855648 Orphanet:93324 MESH:C537021 MEDGEN:340923 Kenny-Caffey syndrome, autosomal recessive Kenny-Caffey syndrome, type 1 OMIM:244460 MONDO:0009486 Kenny-Caffey syndrome type 1 GARD:0008367 Kenny-Caffey syndrome