Disease_Mapped_To_Gene
Pediatric Endocrinology Terminology
Kenny-Caffey Syndrome
Kenny-Caffey Syndrome Type 1
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.
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.
C130992
C1855648
Disease or Syndrome
Kenny-Caffey Syndrome Type 1
Kenny-Caffey Syndrome Type 1
NICHD
TBCE Gene
NICHD Terminology