Orphanet: Lethal osteosclerotic bone dysplasia

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Lethal osteosclerotic bone dysplasia

Disease definition

A rare disorder defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.


Classification level: Disorder
  • Synonym(s):
    • Raine syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q78.2
  • OMIM: 259775
  • UMLS: C1850106
  • MeSH: -
  • GARD: 282
  • MedDRA: -
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