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Grant syndrome

Disease definition

Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.

ORPHA:2097

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q87.5
  • ICD-11: LD24.KY
  • OMIM: 138930
  • UMLS: C1841835
  • MeSH: C537293
  • GARD: 2559
  • MedDRA: -

  A summary on this disease is available in Español (2016) Italiano (2016) Nederlands (2016) Polski (2016, pdf)

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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.