Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:667

Autosomal recessive malignant osteopetrosis

Also called Infantile malignant osteopetrosis

Body system
Immunological diseases
Inheritance pattern
Autosomal recessive
Typical age of onset
Infancy, Neonatal
Estimated prevalence
1-9 / 1 000 000 (Europe)
Rarity class
1-9 / 1 000 000

ORPHA:667 is classified under "Immunological diseases" in the Orphanet nomenclature.

Common signs

  • Hearing impairment
  • Otitis media
  • Visual impairment
  • Nystagmus
  • Abnormality of visual evoked potentials
  • Delayed eruption of teeth