Pediatric Endocrinology Terminology
Neonatal Severe Primary Hyperparathyroidism
An autosomal recessive form of Kenny-Caffey syndrome that is secondary to mutation(s) in the TBCE gene that encodes tubulin-specific chaperone E; it is characterized by the following: hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space, cortical thickening and medullary stenosis of long bones, and small hands and feet.
An autosomal recessive form of Kenny-Caffey syndrome that is secondary to mutation(s) in the TCBE gene that encodes tubulin-specific chaperone E; it is characterized by the following: hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space, cortical thickening and medullary stenosis of long bones, and small hands and feet.
C131853
C1832615
Cellosaurus
Disease or Syndrome
NICHD
Neonatal Severe Primary Hyperparathyroidism
Neonatal Severe Primary Hyperparathyroidism
Cellosaurus Disease Terminology
Cellosaurus Terminology
Primary Hyperparathyroidism
NICHD Terminology