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Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type

Disease definition

Dysplastic cortical hyperostosis is an extremely rare primary bone dysplasia with increased bone density characterized by 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.

ORPHA:2204

Classification level: Subtype of disorder
  • Synonym(s):
    • Kozlowski-Tsuruta syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal
  • ICD-10: M89.8
  • ICD-11: LD24.1Y
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 2022
  • MedDRA: -

  A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.