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Dysplastic cortical hyperostosis

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: dysplastic cortical hyperostosis; Kozlowski-Tsuruta syndrome
SNOMED CT: Dysplastic cortical hyperostosis (783165001)
Monarch Initiative: MONDO:0016357
Orphanet: ORPHA2204


An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDysplastic cortical hyperostosis

Recent clinical studies


Kozlowski K, Tsuruta T
Br J Radiol 1989 Apr;62(736):376-8. doi: 10.1259/0007-1285-62-736-376. PMID: 2653549

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