A disease of a group in which bones increase in density.
Osteopetrosis is a rare hereditary disorder that is caused by a deficit in bone resorption and results in abnormally dense bones that are nonetheless fragile and brittle. The primary underlying mechanism involved in osteopetrosis is due to defects in osteoclasts, which are specialized cells that are necessary for forming bone marrow. Due to the lack of bone marrow (which is responsible for the production of blood cells), several clinical problems can manifest, such as anemia, excessive bleeding (due to inability of blood to clot), and increased infection (due to impairment of white blood cells).
A genetic disorder in which the bones become abnormally hard and dense (petros is Greek for “stone”), causing excess bone creation because of disruption in the normal breaking down and rebuilding of the bone; also called Albers- Schonberg disease, marble bones, or osteosclerosis fragilis. People with severe osteopetrosis often have a high susceptibility to fractures, severe anemia as bone fills in cavities in the blood- making bone marrow, and growth deformities, especially in the skull. Resulting pressure on nerves often leads to ear and hearing problems, eye and vision problems, paralysis of the face, and early death. The severe form of osteopetrosis is passed on from parents to child as an autosomal recessive trait. A milder form, passed on as an autosomal dominant trait, generally involves short stature, easily fractured bones, and a tendency toward osteomyelitis, or infection in the bone.
Inherited disorder characterized by an increase in bone density, ranging from a mild form marked by short stature, fragile bones, and a tendency to develop osteomyelitis to a severe form in which the bone marrow cavity is obliterated and severe anemia, skull abnormalities, and cranial nerve pressure results, often leading to death; also called Albers- Schonberg disease; marble bones disease.
A congenital abnormality in which bones become abnormally dense and brittle and tend to fracture. Affected bones appear unusually opaque to X-rays.
A rare hereditary dysplastic disease of bone with at least four subtypes, two of which are Type I: the infantile (malignant) form, an autosomal recessive trait; and Type II: the adult (benign) form (also known as Albers-Schonberg disease), an autosomal dominant trait. In both types of osteopetrosis, normal bone metabolism is disrupted. Although bone continues to be formed, normal resorption diminishes, and the bones become increasingly dense. Radiographs reveal the spotted, marble-like appearance of abnormally calcified bone. In severe cases, this leads to cranial nerve entrapment, bone marrow failure, and recurrent fractures.
A rare hereditary dysplastic disease of bone with at least four subtypes, two of which are Type I: the infantile (malignant) form, an autosomal recessive trait; and Type II: the adult (benign) form (also known as Albers-Schonberg disease), an autosomal dominant trait. In both types of osteopetrosis, normal bone metabolism is disrupted. Although bone continues to be formed, normal resorption diminishes, and the bones become increasingly dense. Radiographs reveal the spotted, marble-like appearance of abnormally calcified bone. In severe cases, this leads to cranial nerve entrapment, bone marrow failure, and recurrent fractures.
An extremely uncommon hereditary condition characterized by the densification and increased density of bones. The insufficiency of one of the two types of bone cells essential for proper bone development leads to the disturbance of regular bone structure. In its least severe manifestation, symptoms might not manifest. In more intense instances, it leads to heightened vulnerability to fractures, inhibited growth, distortion, and anemia. Nerve compression can induce issues like blindness, hearing loss, and facial paralysis.
The primary objective of most osteopetrosis treatments is to alleviate symptom intensity. In select instances, bone marrow transplants involving cells with potential to generate healthy bone cells are pursued.
A hereditary condition marked by heightened bone density, spontaneous fractures, spleen enlargement, and anemia. Typically, symptoms manifest during childhood, with fractures occurring even with minor injuries, and a general developmental delay. The anemia primarily results from the constriction of the bone marrow cavity, which houses the blood-forming mechanism, leading to a significant reduction in the overall “blood factory space” in the body. This condition is also known as Albers-Schonberg disease, marble bones, or osteosclerosis.