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Trismus Pseudocamptodactyly Syndrome
Trismus pseudocamptodactyly syndrome is a rare genetic condition. A defining feature is the inability to open the mouth completely (trismus). Other signs and symptoms include abnormally short tendons and muscles, resulting in contractures, club foot Clubfoot is a congenital or acquired defect where one or both feet are supinated, rotated inward and plantar flexion, downward. Congenital clubfoot is the most common congenital malformation of the foot with an incidence of 1 per 1000 births. ..., and other musculoskeletal abnormalities. Genetics It is an autosomal dominant condition caused by a mutation in MYH8. Approximately 60 cases have been reported worldwide. Diagnosis Treatment Treatment is symptomatic in nature. References External links Rare syndromes Musculoskeletal disorders {{Genetic-disorder-stub} ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Trismus
Trismus is a condition of restricted opening of the mouth. The term was initially used in the setting of tetanus. Trismus may be caused by spasm of the muscles of mastication or a variety of other causes. Temporary trismus occurs much more frequently than permanent trismus. It is known to interfere with eating, speaking, and maintaining proper oral hygiene. This interference, specifically with an inability to swallow properly, results in an increased risk of aspiration. In some instances, trismus presents with altered facial appearance. The condition may be distressing and painful. Examination and treatments requiring access to the oral cavity can be limited, or in some cases impossible, due to the nature of the condition itself. Definition Trismus is defined as painful restriction in opening the mouth due to a muscle spasm, however it can also refer to limited mouth opening of any cause. Another definition of trismus is simply a limitation of movement. Historically and commonly ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Contracture
In pathology, a contracture is a shortening of muscles, tendons, skin, and nearby soft tissues that causes the joints to shorten and become very stiff, preventing normal movement. A contracture is usually permanent, but less commonly can be temporary (such as in McArdle disease), or resolve over time but reoccur later in life (such as in Bethlem myopathy 1). It is usually in response to prolonged hypertonic spasticity in a concentrated muscle area, such as is seen in the tightest muscles of people with conditions like spastic cerebral palsy, but can also be due to the congenital abnormal development of muscles and connective tissue in the womb. Contractures develop usually when normally elastic tissues such as muscles or tendons are replaced by inelastic tissues ( fibrosis). This results in the shortening and hardening of these tissues, ultimately causing rigidity, joint deformities and a total loss of movement around the joint. Most of the physical therapy, occupational th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Club Foot
Clubfoot is a congenital or acquired defect where one or both feet are supinated, rotated inward and plantar flexion, downward. Congenital clubfoot is the most common congenital malformation of the foot with an incidence of 1 per 1000 births. In approximately 50% of cases, clubfoot affects both feet, but it can present unilaterally causing one leg or foot to be shorter than the other. Most of the time, it is not associated with other problems. Without appropriate treatment, the foot deformity will persist and lead to pain and impaired ability to walk, which can have a dramatic impact on the quality of life. The exact cause is usually not identified. Both genetic and environmental factors are believed to be involved. There are two main types of congenital clubfoot: Idiopathic disease, idiopathic (80% of cases) and secondary clubfoot (20% of cases). The idiopathic congenital clubfoot is a multifactorial condition that includes environmental, vascular, positional, and genetic fac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MYH8
Myosin-8 is a protein that in humans is encoded by the ''MYH8'' gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei .... Mutations in MYH8 are associated with Trismus pseudocamptodactyly syndrome. References Further reading * * * * * * * * {{gene-17-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Syndromes
Rare may refer to: * Rare, a particular temperature of meat * Something infrequent or scarce, see Scarcity :* Rare species, a conservation category in biology designating the scarcity of an organism and implying a threat to its viability Rare or RARE may also refer to: Acronyms * Ram Air Rocket Engine, a U.S. Navy program of the 1950s *Ronne Antarctic Research Expedition Music * Rare (Northern Irish band), a 1990s trip hop group * Rare (Serbian band), an alternative rock band Albums * ''Rare'' (Asia album), 1999 * ''Rare'' (David Bowie album), 1982 * ''Rare'' (Hundredth album), 2017 * ''Rare'' (Selena Gomez album) or the title song (see below), 2020 * '' Rare!'', by Crack the Sky, 1994 * '' Rare, Vol. 1'', by Ultravox, 1993 * '' Rare, Vol. 2'', by Ultravox, 1994 * ''Rare: The Collected B-Sides 1989–1993'', by Moby, 1996 * ''Rare'', by Xiu Xiu, 2012 Songs * "Rare" (Gwen Stefani song), 2016 * "Rare" (Selena Gomez song), 2020 * "Rare", by Man Overboard from ''Man O ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
