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Abnormal duodenum morphology

MedGen UID:
871235
Concept ID:
C4025716
Anatomical Abnormality
Synonym: Abnormality of the duodenum
 
HPO: HP:0002246

Definition

An abnormality of the duodenum, i.e., the first section of the small intestine. [from HPO]

Conditions with this feature

Ehlers-Danlos syndrome, musculocontractural type
MedGen UID:
356497
Concept ID:
C1866294
Disease or Syndrome
Other types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums.\n\nBleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types.\n\nMany people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.\n\nAn unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.\n\nThe various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.\n\nEhlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.

Professional guidelines

PubMed

Brown I, Bettington M, Rosty C
Histopathology 2021 Jan;78(1):88-105. doi: 10.1111/his.14262. PMID: 33382496
Law R, Topazian M
Clin Gastroenterol Hepatol 2014 Feb;12(2):196-203. Epub 2013 May 6 doi: 10.1016/j.cgh.2013.04.037. PMID: 23660418
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Gastrointest Endosc Clin N Am 2009 Jul;19(3):445-60. doi: 10.1016/j.giec.2009.04.006. PMID: 19647651

Recent clinical studies

Etiology

Stiles LI, Ferrao K, Mehta KJ
Clin Exp Med 2024 Feb 17;24(1):38. doi: 10.1007/s10238-024-01302-6. PMID: 38367035Free PMC Article
Nieminen O, Hukkinen M, Kivisaari R, Mutanen A, Merras-Salmio L, Pakarinen MP
J Pediatr Gastroenterol Nutr 2023 Dec 1;77(6):720-725. Epub 2023 Sep 8 doi: 10.1097/MPG.0000000000003934. PMID: 37679875
Mann BK, Bhandohal JS, Cobos E, Chitturi C, Eppanapally S
J Investig Med 2022 Feb;70(2):348-353. Epub 2021 Nov 30 doi: 10.1136/jim-2021-002149. PMID: 34848562
Law R, Topazian M
Clin Gastroenterol Hepatol 2014 Feb;12(2):196-203. Epub 2013 May 6 doi: 10.1016/j.cgh.2013.04.037. PMID: 23660418
Lehman GA
Can J Gastroenterol 2003 Jun;17(6):381-3. doi: 10.1155/2003/781237. PMID: 12813605

Diagnosis

Dusunceli Atman E, Erden A, Ustuner E, Uzun C, Bektas M
Korean J Radiol 2015 Nov-Dec;16(6):1240-52. Epub 2015 Oct 26 doi: 10.3348/kjr.2015.16.6.1240. PMID: 26576112Free PMC Article
Graziano K, Islam S, Dasgupta R, Lopez ME, Austin M, Chen LE, Goldin A, Downard CD, Renaud E, Abdullah F
J Pediatr Surg 2015 Oct;50(10):1783-90. Epub 2015 Jun 30 doi: 10.1016/j.jpedsurg.2015.06.019. PMID: 26205079
McNeeley MF, Lalwani N, Dhakshina Moorthy G, Maki J, Dighe MK, Lehnert B, Prasad SR
Abdom Imaging 2014 Dec;39(6):1330-49. doi: 10.1007/s00261-014-0157-2. PMID: 24811767
Law R, Topazian M
Clin Gastroenterol Hepatol 2014 Feb;12(2):196-203. Epub 2013 May 6 doi: 10.1016/j.cgh.2013.04.037. PMID: 23660418
Carachi R, Azmy A
Pediatr Surg Int 2002 Sep;18(5-6):371-4. Epub 2002 May 9 doi: 10.1007/s00383-002-0835-y. PMID: 12415358

Therapy

Stiles LI, Ferrao K, Mehta KJ
Clin Exp Med 2024 Feb 17;24(1):38. doi: 10.1007/s10238-024-01302-6. PMID: 38367035Free PMC Article
Xu H, Chai CP, Miao X, Tang H, Hu JJ, Zhang H, Zhou WC
World J Gastroenterol 2023 May 7;29(17):2642-2656. doi: 10.3748/wjg.v29.i17.2642. PMID: 37213400Free PMC Article
Qi X, Guo X, Shao X
Dig Liver Dis 2019 Dec;51(12):1739. Epub 2019 Oct 11 doi: 10.1016/j.dld.2019.09.007. PMID: 31611154
Owen DR, Owen DA
Arch Pathol Lab Med 2018 Jan;142(1):35-43. Epub 2017 Jul 31 doi: 10.5858/arpa.2016-0608-RA. PMID: 28758791
Ponchon T, Pilleul F
Endoscopy 2002 Jan;34(1):29-42. doi: 10.1055/s-2002-19397. PMID: 11778128

Prognosis

Nieminen O, Hukkinen M, Kivisaari R, Mutanen A, Merras-Salmio L, Pakarinen MP
J Pediatr Gastroenterol Nutr 2023 Dec 1;77(6):720-725. Epub 2023 Sep 8 doi: 10.1097/MPG.0000000000003934. PMID: 37679875
Estefanía-Fernández K, Andrés A, Alcolea A, Velayos-López M, Pastrían LG, Ramírez-Amorós C, Gonzalez R, Sarría M, Ramos E, López-Santamaria M, Hernández F
Pediatr Transplant 2022 Aug;26(5):e14270. Epub 2022 Mar 20 doi: 10.1111/petr.14270. PMID: 35307919
Law R, Topazian M
Clin Gastroenterol Hepatol 2014 Feb;12(2):196-203. Epub 2013 May 6 doi: 10.1016/j.cgh.2013.04.037. PMID: 23660418
Ma MX, John M, Forbes GM
Expert Rev Gastroenterol Hepatol 2013 Sep;7(7):643-55. doi: 10.1586/17474124.2013.834125. PMID: 24070155
Balistreri WF
J Pediatr 1985 Feb;106(2):171-84. doi: 10.1016/s0022-3476(85)80282-1. PMID: 3881579

Clinical prediction guides

Nieminen O, Hukkinen M, Kivisaari R, Mutanen A, Merras-Salmio L, Pakarinen MP
J Pediatr Gastroenterol Nutr 2023 Dec 1;77(6):720-725. Epub 2023 Sep 8 doi: 10.1097/MPG.0000000000003934. PMID: 37679875
Xu H, Chai CP, Miao X, Tang H, Hu JJ, Zhang H, Zhou WC
World J Gastroenterol 2023 May 7;29(17):2642-2656. doi: 10.3748/wjg.v29.i17.2642. PMID: 37213400Free PMC Article
Mamidi S, Bansal N, Singhal A, Singh PK, Sharma PK
J Assoc Physicians India 2022 Apr;70(4):11-12. PMID: 35443497
Singh AD, Bhatt A, Joseph A, Lyu R, Heald B, Macaron C, Liska D, Burke CA
Gastrointest Endosc 2022 Mar;95(3):455-467.e3. Epub 2021 Oct 5 doi: 10.1016/j.gie.2021.09.036. PMID: 34624304
Ma MX, John M, Forbes GM
Expert Rev Gastroenterol Hepatol 2013 Sep;7(7):643-55. doi: 10.1586/17474124.2013.834125. PMID: 24070155

Recent systematic reviews

Solís-García Del Pozo J, de Cabo C, Solera J
Orphanet J Rare Dis 2020 May 19;15(1):115. doi: 10.1186/s13023-020-01395-8. PMID: 32429959Free PMC Article
Chen L, Guan J, Gu H, Zhang M
Eur J Obstet Gynecol Reprod Biol 2019 Feb;233:120-126. Epub 2018 Dec 13 doi: 10.1016/j.ejogrb.2018.12.007. PMID: 30594021
Marlicz W, Skonieczna-Żydecka K, Yung DE, Loniewski I, Koulaouzidis A
Dig Liver Dis 2017 Oct;49(10):1073-1085. Epub 2017 Aug 9 doi: 10.1016/j.dld.2017.07.015. PMID: 28847471
Taghavi K, Sharpe C, Stringer MD
J Pediatr Urol 2017 Feb;13(1):7-15. Epub 2016 Oct 8 doi: 10.1016/j.jpurol.2016.09.003. PMID: 27889224
Srisajjakul S, Prapaisilp P, Bangchokdee S
Clin Imaging 2016 Nov-Dec;40(6):1173-1181. Epub 2016 Aug 6 doi: 10.1016/j.clinimag.2016.08.007. PMID: 27572283

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