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Intermediate osteopetrosis

Disease definition

Intermediate osteopetrosis is a rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.

ORPHA:210110

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive intermediate osteopetrosis
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q78.2
  • OMIM: 611497
  • UMLS: C0432261  C1969093
  • MeSH: -
  • GARD: 4156
  • MedDRA: -

Detailed information

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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.