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High bone density, Acro-osteolysis and obtuse mandibular angle are the characteristic radiological findings of this disorder. [10] Pycnodysostosis also causes problems that may become evident with time. Aside from the broken bones, the distal phalanges and the collar bone can undergo slow progressive deterioration.
The majority of the current data supports the concept that bone mass is controlled by LRP5 through the osteocytes. [26] Mice with the same Lrp5 gain-of-function mutations as also have high bone mass. [27] The high bone mass is maintained when the mutation only occurs in limbs or in cells of the osteoblastic lineage. [17] Bone ...
Worth syndrome is caused by a mutation in the LRP5 gene, located on human chromosome 11q13.4. [3] [6] The disorder is inherited in an autosomal dominant fashion. [1]This indicates that the defective gene responsible for a disorder is located on an autosome (chromosome 11 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent ...
Hajdu–Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible, arthrodentoosteodysplasia and Cheney syndrome, [1] is an extremely rare autosomal dominant congenital disorder [2] [3] of the connective tissue characterized by severe and excessive bone resorption leading to osteoporosis and a wide range of other possible symptoms.
This mutation causes bone deformities, fractures, and delayed tooth eruption. [73] Type XIII – OI caused by a mutation in the bone morphogenetic protein 1 (BMP1) gene on chromosome 8p21.3. [74] This mutation causes recurrent fractures, high bone mass, and hypermobile joints. [75] Type XIV – OI caused by mutations in the TMEM38B gene on ...
Fibrodysplasia ossificans progressiva (/ ˌ f aɪ b r oʊ d ɪ ˈ s p l eɪ ʒ (i) ə ɒ ˈ s ɪ f ɪ k æ n z p r ə ˈ ɡ r ɛ s ɪ v ə /; [1] abbr. FOP), also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue (ossification).
Treatment is aimed at controlling symptoms, but there is no cure. Any bone or bones can be affected, but Paget's disease occurs most frequently in the spine, skull, pelvis, femur, and lower legs. Osteogenic sarcoma, a form of bone cancer, is a rare complication of Paget's disease occurring in less than one percent of those affected. The ...
Osteopetrosis, literally ' stone bone ', 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.