[Kenny-Caffey syndrome and its related syndromes]

Nihon Rinsho. 2015 Nov;73(11):1959-64.
[Article in Japanese]

Abstract

Kenny-Caffey syndrome (KCS) is a very rare dysmorphologic syndrome characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism. Two types of KCS were known: the autosomal recessive form (KCS type 1), which is caused by mutations of the TBCE gene, and the autosomal dominant form (KCS type 2), which is caused by mutations of the FAM111A gene. TBCE mutation also causes hypoparathyroidism-retardation-dysmorphism syndrome, and FAM111A mutation also causes gracile bone dysplasia. These two diseases can be called as KCS-related syndromes. In this article, we review the clinical manifestations of KCS and discuss its related syndromes.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple
  • Calcinosis
  • Dwarfism* / genetics
  • Dwarfism* / pathology
  • Growth Disorders
  • Humans
  • Hyperostosis, Cortical, Congenital* / genetics
  • Hyperostosis, Cortical, Congenital* / pathology
  • Hypocalcemia* / genetics
  • Hypocalcemia* / pathology
  • Hypoparathyroidism
  • Intellectual Disability
  • Molecular Chaperones / genetics
  • Osteochondrodysplasias
  • Receptors, Virus / genetics
  • Seizures

Substances

  • FAM111A protein, human
  • Molecular Chaperones
  • Receptors, Virus
  • TBCE protein, human

Supplementary concepts

  • Hypoparathyroidism-retardation-dysmorphism syndrome
  • Kenny-Caffey syndrome, type 2