#166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE II; OPTA2 Alternative titles; MARBLE BONES, AUTOSOMAL DOMINANT OSTEOSCLEROSIS FRAGILIS GENERALISATA ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT Gene map locus 16p13 autosomal dominant osteopetrosis type II can result from mutation in the CLCN7 gene (602727). DESCRIPTION Autosomal dominant osteopetrosis type II is characterized by sclerosis, predominantly involving the spine, the pelvis, and the skull base. CLINICAL FEATURES Salzano ...

What is Osteopetrosis? Osteopetrosis is a congenital disorder characterized by defective or absent osteoclasts, the cells that break down bone. In healthy bone, a balance is achieved between the production of bone by osteoblasts, and the break down of bone by osteoclasts. In osteopetrosis, osteoclasts don’t function normally, and the production of bone by osteoblasts leads to bones that are abnormally dense and brittle. In severe osteopetrosis, the bone marrow space within the bone is ...

Osteopetrosis (benign) may cause or feature Miscellaneous syndromes Hyperostosis Pathological fracture Haematological abnormalities Leucoerythroblastic anaemia Biochemical abnormalities Acid phosphatase levels raised (plasma or serum) X-ray abnormalities Osteosclerosis may be a risk factor for Osteomyelitis belong(s) to the category of Mendelian inherited conditions

259710 OSTEOPETROSIS, MILD AUTOSOMAL RECESSIVE FORM Burns et al. (1978) described a form of osteopetrosis resembling the autosomal dominant form (166600) in its benignity but displaying autosomal recessive inheritance like the malignant infantile form (259700). The clinical features were variable but included mandibular prognathism, genu valgum, anemia, hepatosplenomegaly, and tendency to fracture and mandibular osteomyelitis. Dental anomalies included retention of deciduous teeth, ...

Synonyms of Osteopetrosis Albers-Schonberg Disease Marble Bones Osteosclerosis Fragilis Generalisata Disorder Subdivisions Osteopetrosis, autosomal dominant; adult type Osteopetrosis, autosomal recessive; malignant infantile type Osteopetrosis, mild autosomal recessive; intermediate type General Discussion Osteopetrosis may be inherited as either a dominant or recessive trait and is marked by increased bone density, brittle bones, and, in some cases, skeletal abnormalities. ...

- osteopetrosis is failure of osteoclastic and chondroclastic resorption; - bones become exceedingly dense; - marrow space is filled w/ unresorbed dense bone; - disease results from lack of osteoclastic resorption, leading to thickened bones & exclusion of marrow cavity; - there is absence of marrow elements & these patients are susceptible to infectious diseases

Rare Diseases: Osteopetrosis (malignant infantile form) Alternative Names: MIOP Definition Malignant infantile osteopetrosis (MIOP) is a rare disease that results in a child having abnormal bones. This disease occurs because cells, called osteoclasts, do not function properly. In order to maintain healthy bones, a balance must be maintained between cells called osteoblasts, which make new bone, and osteoclasts, which break down and get rid of old bone. Children affected with ... Expert

This site has been designed to provide information mostly for families affected by the severe form of the disease called Malignant infantile osteopetrosis. This is usually diagnosed very early in life. We also provide some information on other forms of the disease. Patient Provider

Osteopetrosis / marble bone disease, Albers-Schonberg disease / is an extremely rare inherited disorder whereby the bones harden, becoming denser. Normally, bone growth is a balance between osteoblasts (cells that create bone tissue) and osteoclasts (cells that destroy bone tissue). Sufferers of osteopetrosis have a deficiency of osteoclasts, meaning too much bone is being created. Despite this excess bone formation, people with osteopetrosis tend to have bones that are more brittle than ...

Osteopoikilosis is a condition of unknown origin which is transmitted in an autosomal dominant manner with high penetrance (meaning patients with the gene usually have the condition). Some cases are spontaneous and there is no family history. Males and females are equally affected. Patients are asymptomatic, and laboratory exams are normal. Osteosarcoma has been reported to occur in affected bone. associated conditions include: dermatofibrosis lenticularis disseminata, scleroderma, ...

"An asymptomatic, autosomal dominant trait in which pea-sized sclerotic spots, prominent in the metaphyseal area, are accompanied by unique cutaneous lesions. These are yellowish papules or plaques with increased elastin content. (From Cecil Textbook of Medicine, 19th ed, pp1434-35)" aka/or Buschke-Ollendorf syndrome aka/or Dermatofibrosis lenticularis aka/or Disseminated dermatofibrosis aka/or Osteodermatopoikilosis aka/or Osteopathia condensans disseminata may cause or feature ...

Enostoses (bone islands) form when endochondral ossification proceeds normally, but the mature bony trabeculae fail to properly remodel. Osteopoikilosis (osteopathia condensans disseminata, or “spotted bone disease”), like enostosis or osteopathia striata, is typically an autosomal dominant, asymptomatic disorder characterized by an abnormality in the endochondral bone maturation process. Osteopoikilosis results in numerous rounded or oval, 2-10mm enostoses that appear in childhood and ...

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literally translated means spotted bones; - condition is a radiologic curiosity that is transmitted as autosomal dominant trait with a high degree of penetrance; - bony lesions are typically asymptomatic

In just 3 years, striking new advances have been made in understanding the molecular mechanisms that govern the crosstalk between osteoblasts/stromal cells and hemopoietic osteoclast precursor cells that leads to osteoclastogenesis. Led first by the discovery of osteoprotegerin (OPG), a naturally occurring protein with potent osteoclastogenesis inhibitory activity, rapid progress was made to the isolation of RANKL, a transmembrane ligand expressed on osteoblasts/stromal cells, that binds to ...