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Start free with EleplanAutosomal recessive malignant osteopetrosis
ORPHA:667Malformation syndrome
Also called Infantile malignant osteopetrosis
What it is
A rare congenital disorder of bone resorption characterized by generalized skeletal densification.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Europe)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
35- Abnormal blistering of the skin
- Abnormality of epiphysis morphology
- Abnormality of hair texture
- Abnormality of metabolism/homeostasis
- Abnormality of movement
- Abnormality of temperature regulation
- Abnormality of visual evoked potentials
- Abnormal metaphysis morphology
- Abnormal rib morphology
- Anemia
- Bone pain
- Bowing of the long bones
- Chronic rhinitis
- Craniosynostosis
- Delayed eruption of teeth
- Growth delay
- Hearing impairment
- Hepatomegaly
- Hydrocephalus
- Lymphadenopathy
- Macrocephaly
- Narrow chest
- Nystagmus
- Opsoclonus
- Optic nerve compression
- Osteopetrosis
- Otitis media
- Pallor
- Premature loss of primary teeth
- Recurrent fractures
- Recurrent respiratory infections
- Reduced bone mineral density
- Splenomegaly
- Tremor
- Visual impairment
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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