osteopetrosis
A doctor shows a patient an X-ray image of dense bones affected by osteopetrosis.
Noun: A rare genetic (inherited) disorder characterized by abnormally dense, hard, and brittle bones due to defective bone resorption by osteoclasts. This increased bone density can lead to complications such as bone marrow cavity reduction, anemia, and increased susceptibility to fractures.
- Noun:
- The diagnosis of osteopetrosis explained the child's frequent fractures and vision problems.
- Treatment for severe osteopetrosis may include a bone marrow transplant.
- Medical Context: The term is used almost exclusively in medical, genetic, and pathological contexts. It is often categorized by age of onset (e.g., infantile/malignant osteopetrosis, adult/benign osteopetrosis).
- "Marble bone disease": This is a descriptive, non-technical synonym for osteopetrosis, referring to the dense, stone-like appearance of the bones on X-rays.
- Albers-Schönberg disease: Another name for the adult, autosomal dominant form of osteopetrosis.
- Osteopetrotic (adj): Relating to or affected by osteopetrosis.
- The patient showed osteopetrotic changes on the radiograph.
- Marble bone disease
- Albers-Schönberg disease (specific form)
While the core definition is constant, the severity and associated symptoms define the major types: 1. Infantile/Malignant Osteopetrosis: Severe, autosomal recessive form presenting in infancy with life-threatening complications like bone marrow failure. 2. Adult/Benign Osteopetrosis: Milder, autosomal dominant form where many individuals may be asymptomatic or have minor symptoms.
A doctor shows a patient an X-ray image of dense bones affected by osteopetrosis.
- an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated