osteopetrosis
Sign in to saveOsteopetrosis, literally , also known as marble bone disease or Albers-Schönberg disease, is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in which the bones soften. Osteopetrosis can cause bones to dissolve and break.
Key facts
- Medical condition.name
- Adult-onset osteopetrosis (Albers-Schönberg Disease)
- Medical condition.image
- Osteopetrosis pelvis X-ray.png
- Medical condition.caption
- X-ray of the pelvis of a patient with osteopetrosis, adult onset form (Albers-Schönberg disease). Note the dense appearance.
via Wikipedia infobox
Research
3,838 papers- Osteopetrosis.Orphanet journal of rare diseases · 2009
- Autosomal dominant osteopetrosis.Bone · 2023
- Osteopetrosis.American journal of orthopedics (Belle Mead, N.J.) · 2003
- Phenotype-autosomal recessive osteopetrosis.Bone · 2022
- Genetics of Osteopetrosis.Current osteoporosis reports · 2018
via PubMed
Article
15 sectionsContents
- Signs and symptoms
- Malignant infantile osteopetrosis
- Adult osteopetrosis
- Causes
- Gene variation
- Mechanisms
- Diagnosis
- Treatment
- Prognosis
- Prevalence
- Recent research
- Notable cases
- References
- Bibliography
- External links
Osteopetrosis, literally , also known as marble bone disease or Albers-Schönberg disease, is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in which the bones soften. Osteopetrosis can cause bones to dissolve and break.
It is one of the hereditary causes of osteosclerosis. It is considered to be the prototype of osteosclerosing dysplasias. The cause of the disease is understood to be malfunctioning osteoclasts and their inability to resorb bone. Although human osteopetrosis is a heterogeneous disorder encompassing different molecular lesions and a range of clinical features, all forms share a single pathogenic nexus in the osteoclast. The exact molecular defects or location of the mutations taking place are unknown. Osteopetrosis was first described in 1903 by German radiologist Albers-Schönberg.