ORPHA:210110
Intermediate osteopetrosis
Also called Autosomal recessive intermediate osteopetrosis
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Childhood
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:210110 is classified under "Immunological diseases" in the Orphanet nomenclature.
Common signs
- Abnormality of bone mineral density
- Increased susceptibility to fractures
- Recurrent fractures
- Back pain
- Sandwich appearance of vertebral bodies
- Erlenmeyer flask deformity of the femurs