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Lethal osteosclerotic bone dysplasia

Disease definition

Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.

ORPHA:1832

  • 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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