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User:CSD2020UPRC/Deformity

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A deformed sucker cluster on an arm of an octopus

A deformity, dysmorphism, or dysmorphic feature is a structural abnormality in the shape of a body part or organ compared to the normal shape of that part caused by mechanical forces.[1] Deformities can be classified or divide into congenital deformity, occurs during the development of the fetus within the uterus, before or during birth, and acquired deformity, caused by trauma, infections, degeneration (e.g. osteoarthritis), arthritis, metabolism and other systemic disorders (example: an increase or decrease of hormones). [2][3]

Causes

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Congenital deformities:

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Birth defects or Congenital disorder

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Birth defects or congenital defects are structural or functional abnormality that occurs within the uterus.[2] Birth defects can be identified during pregnancy (prenatal development), at birth, or in childhood.[4] Although no specific cause has been found or establish, some of its cause can be a genetic mutation, an infection during pregnancy, or an injury during childbirth.[5] Birth defects are not necessarily hereditary, even though one of its causes is genetics.

Arthrogryposes

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Arthrogryposis or Arthrogryposis multiplex congenita (AMC) is a term used to describes the multiple joint contractions in two or more areas or parts of the body. [6] [7] It does not refer to a single condition; refer to a symptom complex can be cognate with different medical conditions. [8]

Diastrophic dysplasia

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Diastrophic dysplasia (DTD) is a disorder in the bone and cartilage bone development.[9] This skeleton disorder is due to a genetic mutation in the SLC26A2 gene, the one responsible for providing the instructions for making the essential protein for the normal development of the cartilage.[10] [11]Also, characterized by limb shortening (short arms and legs), hitchhiker thumbs, club foot and hand, spinal deformities, as it is scoliosis, osteoarthritis, bone contracture in the joints.[11]

Acquired deformities:

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Malunion

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Malunion is the result after a fracture when in the healing process, the end of the fractures bones are not aligned in the correct position, and the large space between the end of the bones is filled with new bone.[12] Besides, it is this the result when fractured bones are left to heal without being properly set or treated with incorrect treatment.[13] When this happens, the bones heal and form a deformity. [13]

Swan neck deformity (hand deformation) due to arthritis rheumatoid. [14]

Degeneration

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Degeneration, degenerative bone diseases, or osteoporosis is a condition in which the bone loses mass and density becoming prone to fractures.[15] This condition can cause severe pain, loss of height, posture; one of the most common deformities cause by osteoporosis is vertebral deformity that occurs due to bone fractures. [16][17] In conditions, as it is osteoarthritis, degeneration occurs when the bone overgrows the space between joints narrowed. The cartilage of the bone disappears, so tissue form and surround the joint, forming a deformity causing stiffness and reducing the mobility of the joints.[18][15]

Chronic paresis, paralysis or muscle imbalance

Arthritis and rheumatoid disorders

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Arthritis is the term that refers to any disorder that affects the joints. [19] There are several types of arthritis, which can cause deformities in joints and different parts of the body.[19][20] Some types of arthritis not only affect joints but also may affect skin and organs.[19][21] The most common types of arthritis are arthritis rheumatoid and osteoarthritis.[20]

Arthritis Rheumatoid
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Arthritis rheumatoid is a chronic inflammatory disorder that occurs when the immune system attacks by error the body tissues.[21] According to the Arthritis Foundation, a joint deformation caused by arthritis rheumatoid the "inflammatory cells of the immune system gather in the lining of the joint (called synovium), forming a fibrous layer of abnormal tissue (called pannus). The pannus releases substances that quicken bone erosion, cartilage destruction and damage to the surrounding ligaments. The involved joints lose their shape and alignment, resulting in deformities. Severe deformities lead to loss of joint function and the need for joint replacement surgery."[3]

Types of deformities

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Boutonniere deformity

Boutonniere deformity (hand deformation)

Boutonniere deformity is a flexion in the finger at the proximal interphalangeal joint (PIP), any joint between the phalangeal bones in hands and feet, and hyperextended at the distal interphalangeal joint (DIP), the joint that connects the bones with the tip of the finger.[22] [23] The deformity can be caused by injury, trauma, or inflammatory conditions as arthritis rheumatoid.[3][22] In some cases, on arthritis rheumatoid, the middle finger joints blend towards the palm while the outer finger joint can be blend in the opposite direction of the palm.[3]

Swan-neck deformity

Swan neck deformity is flexion in the distal interphalangeal joint (DIP), the joint nearest to the fingertip, and a hyperextended at the proximal interphalangeal joint (PIP), the joints between the phalangeal bones. [23] In other words, swan neck deformity is when the joint in the middle of your fingers blend upward, while the joint nearest to the fingertip blend towards the palm.[24] Its name is due to it resembles a swan's neck.[24] The deformity can be a product of trauma, injury, or inflammatory conditions.[23]

Madelung's deformity

Madelung's deformity is a congenital deformity or abnormality in the wrist's bones, in which the wrist and part of the radius have an abnormal growth, while there is abnormal detention of the growth in the palmar-ulnar distal radius physis.[25] This rare deformity often seen in females can cause stiffness in the wrist bones, loss of motion, severe pain, and noticeable difference in the shape and form of the wrist.[26] Madelung's deformity also can be an acquired deformity as a result of trauma, infections, isolated osteochondroma, or hereditary multiple exostoses.[25]

Bunion

Bunion, also knowns as hallux valgus deformity, is an excess of bone and cartilage in the base of the joint connecting to the big toe, the metatarsophalangeal joint (MTP).[27] This deformity provokes the leaning of the big toe toward the second toe, and it is seen as a protuberance in the lateral area of the toe causing pain and skin irritation.[27] Its cause can be related to tight shoes wearing or high heels and arthritis.[28][27]

Spinal deformity

Spinal deformity is when there is present an abnormality in the spinal.[29] The term includes conditions such as congenital scoliosis, post-traumatic deformities, lordosis, and kyphosis.[30] Exist severe factor for the development of a spinal deformity as it is a congenital disorder, degradation of the bones, trauma, infection as it is tuberculosis, and other internal and external factors.[31][30]

Mortality

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In many cases in which a major deformity is present at birth, it is the result of an underlying condition severe enough that the baby does not survive very long.[32] The mortality of severely deformed births may be due to a range of complications including missing or non-functioning vital organs, structural defects that prevent breathing or eating, and high susceptibility to injuries, abnormal facial appearance, or infections that lead to death. [32]

In mythology

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Mythological creatures may have been created due to a deformative syndrome also, for instance, descriptions of mermaids may be related to the symptoms of sirenomelia. The Irish Mythology includes the Fomorians, who are almost without exception described as being deformed, possessing only one of what most have two of (eyes, arms, legs, etc.) or having larger than normal limbs.[citation needed]

See also

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Wikimedia Commons has media related to Deformity.

References

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  1. ^ Samia Temtamy* & Mona Aglan**  (2013)  Human Genetics & Genome Research Division Human Genetics & Genome Research Division National Research Centre, Cairo, Egypt   
  2. ^ a b Golper, L. A. C., Klaben, B. K., & Miller, C. K. (2018). Medical Speech-Language Pathology : A Desk Reference, Fourth Edition: Vol. 4th ed. Plural Publishing, Inc.
  3. ^ a b c d Mann, Denise. "Joint Deformities in Rheumatoid Arthritis". www.arthritis.org. Retrieved 2020-10-28.{{cite web}}: CS1 maint: url-status (link)
  4. ^ "Congenital anomalies". www.who.int. September 7, 2016. Retrieved 2020-11-01.{{cite web}}: CS1 maint: url-status (link)
  5. ^ "Birth Defect". Genome.gov. Retrieved 2020-11-05.
  6. ^ Henningsen, Charlotte G.; Smith, Sarah L. (November 2005). "Arthrogryposis Multiplex Congenita". Journal of Diagnostic Medical Sonography. 21 (6): 497–501. doi:10.1177/8756479305282917. ISSN 8756-4793.
  7. ^ "Arthrogryposis". American Journal of Obstetrics and Gynecology. 221 (6): B7–B9. 2019-12-01. doi:10.1016/j.ajog.2019.09.021. ISSN 0002-9378.
  8. ^ Møller-Madsen, Bjarne (December 2015). "Arthrogryposis multiplex congenita—an update". Journal of Children's Orthopaedics. 9 (6): 425–426. doi:10.1007/s11832-015-0688-2. ISSN 1863-2521. PMC 4661148. PMID 26482521.{{cite journal}}: CS1 maint: PMC format (link)
  9. ^ "Diastrophic dysplasia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2020-11-18.
  10. ^ "Diastrophic dysplasia: MedlinePlus Genetics". medlineplus.gov. Retrieved 2020-11-18.
  11. ^ a b Bonafé, Luisa; Mittaz-Crettol, Lauréane; Ballhausen, Diana; Superti-Furga, Andrea (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Diastrophic Dysplasia", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301524, retrieved 2020-11-18
  12. ^ "Malunion Fractures | Michigan Medicine". www.uofmhealth.org. Retrieved 2020-11-13.
  13. ^ a b "Malunion of post-traumatic thoracolumbar fractures". Orthopaedics & Traumatology: Surgery & Research. 104 (1): S55–S62. 2018-02-01. doi:10.1016/j.otsr.2017.04.018. ISSN 1877-0568.
  14. ^ Lane, Robert; Nallamothu, Shivajee V. (2020), "Swan-Neck Deformity", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 30247845, retrieved 2020-10-30
  15. ^ a b "Osteoporosis Overview | NIH Osteoporosis and Related Bone Diseases National Resource Center". www.bones.nih.gov. Retrieved 2020-11-15.
  16. ^ "Osteoporosis and Arthritis: Two Common but Different Conditions | NIH Osteoporosis and Related Bone Diseases National Resource Center". www.bones.nih.gov. Retrieved 2020-11-15.
  17. ^ Osteoporosis. Marcus, Robert, 1940-, Feldman, David, 1939-, Dempster, David W.,, Luckey, Marjorie,, Cauley, Jane A., (Fourth edition ed.). Amsterdam. ISBN 978-0-12-398252-0. OCLC 851078242. {{cite book}}: |edition= has extra text (help)CS1 maint: extra punctuation (link) CS1 maint: others (link)
  18. ^ Osteoarthritis. Brandt, Kenneth D., Doherty, Michael, 1951-, Lohmander, Stefan. Oxford: Oxford University Press. 2003. ISBN 0-19-850967-7. OCLC 53369805.{{cite book}}: CS1 maint: others (link)
  19. ^ a b c Nancy Garrick, Deputy Director (2017-04-14). "Arthritis". National Institute of Arthritis and Musculoskeletal and Skin Diseases. Retrieved 2020-10-23.
  20. ^ a b Weisman, Michael H. Rheumatoid arthritis. Oxford. ISBN 978-0-19-981356-8. OCLC 867050387.
  21. ^ a b "Artritis reumatoide - Síntomas y causas - Mayo Clinic". www.mayoclinic.org. Retrieved 2020-10-28.
  22. ^ a b Binstead, Justin T.; Tafti, Dawood; Hatcher, Jason D. (2020), "Boutonniere Deformity", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 29262145, retrieved 2020-11-03
  23. ^ a b c McKeon, Kathleen E.; Lee, Donald H. (2015). "Posttraumatic Boutonnière and Swan Neck Deformities". Journal of the American Academy of Orthopaedic Surgeons. 23 (10): 623–632. doi:10.5435/JAAOS-D-14-00272. ISSN 1067-151X.
  24. ^ a b Ridley, William E.; Xiang, Hao; Han, Jason; Ridley, Lloyd J. (2018). "Swan neck deformity". Journal of Medical Imaging and Radiation Oncology. 62 (S1): 159–160. doi:10.1111/1754-9485.31_12786. ISSN 1754-9485.
  25. ^ a b Knutsen, Elisa J.; Goldfarb, Charles A. (September 2014). "Madelung's Deformity". HAND. 9 (3): 289–291. doi:10.1007/s11552-014-9633-y. ISSN 1558-9447. PMC 4152440. PMID 25191158.{{cite journal}}: CS1 maint: PMC format (link)
  26. ^ Kozin, Scott H.; Zlotolow, Dan A. (October 2015). "Madelung Deformity". The Journal of Hand Surgery. 40 (10): 2090–2098. doi:10.1016/j.jhsa.2015.03.033.
  27. ^ a b c "Bunions - OrthoInfo - AAOS". www.orthoinfo.org. Retrieved 2020-11-16.
  28. ^ Barnish, Maxwell S; Barnish, Jean (January 2016). "High-heeled shoes and musculoskeletal injuries: a narrative systematic review". BMJ Open. 6 (1): e010053. doi:10.1136/bmjopen-2015-010053. ISSN 2044-6055.
  29. ^ Moon, Myung-Sang; Lee, Bong-Jin; Kim, Sung-Soo (2010). "Spinal deformity". Indian Journal of Orthopaedics. 44 (2): 123. doi:10.4103/0019-5413.61725. ISSN 0019-5413. PMC 2856386. PMID 20418998.{{cite journal}}: CS1 maint: PMC format (link) CS1 maint: unflagged free DOI (link)
  30. ^ a b Spinal deformities : the essentials. Heary, Robert F.,, Albert, Todd J., (Second edition ed.). New York. ISBN 978-1-60406-412-4. OCLC 894555386. {{cite book}}: |edition= has extra text (help)CS1 maint: extra punctuation (link) CS1 maint: others (link)
  31. ^ Hedequist, Daniel; Emans, John (July 2004). "Congenital Scoliosis:". Journal of the American Academy of Orthopaedic Surgeons. 12 (4): 266–275. doi:10.5435/00124635-200407000-00007. ISSN 1067-151X.
  32. ^ a b "Diastrophic Dysplasia", SpringerReference, Berlin/Heidelberg: Springer-Verlag, retrieved 2020-11-18
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