U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
Bleeding 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\nOther 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\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

Chen CP
Taiwan J Obstet Gynecol 2024 Mar;63(2):257-259. doi: 10.1016/j.tjog.2024.01.026. PMID: 38485327
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

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
Ren PLJ, Gupta A
J Radiol Case Rep 2020 Mar;14(3):14-23. Epub 2020 Mar 31 doi: 10.3941/jrcr.v14i3.3830. PMID: 33082917Free PMC Article
Pop C, Purcăreanu A, Purcărea M, Andronescu D
J Med Life 2008 Apr-Jun;1(2):118-29. PMID: 20108458Free PMC Article
Offerhaus GJ, Entius MM, Giardiello FM
Hepatogastroenterology 1999 Mar-Apr;46(26):667-9. PMID: 10370594
Caniano DA, Ormsbee HS 3rd, Polito W, Sun CC, Barone FC, Hill JL
J Pediatr Surg 1985 Aug;20(4):456-60. doi: 10.1016/s0022-3468(85)80241-4. PMID: 4045675

Diagnosis

Chen CP
Taiwan J Obstet Gynecol 2024 Jan;63(1):17-18. doi: 10.1016/j.tjog.2023.11.006. PMID: 38216262
Zimmer V, Bergheim C
Clin Gastroenterol Hepatol 2020 Jan;18(1):A35. Epub 2018 Sep 7 doi: 10.1016/j.cgh.2018.08.072. PMID: 30196159
D'Cruz R, Emil S
J Pediatr Surg 2008 Nov;43(11):2121-3. doi: 10.1016/j.jpedsurg.2008.07.019. PMID: 18970955
Rao PL, Kumar V
Indian J Pediatr 2005 Jan;72(1):86. doi: 10.1007/BF02760597. PMID: 15684461
Duong M, Dinoulos JG, Gupta A, Bryk T, Saps M, Di Lorenzo C, Sveen A, Waseem M, Kin LL
Pediatr Rev 2005 Jan;26(1):23-33. doi: 10.1542/pir.26-1-23. PMID: 15629904

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
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
Duong M, Dinoulos JG, Gupta A, Bryk T, Saps M, Di Lorenzo C, Sveen A, Waseem M, Kin LL
Pediatr Rev 2005 Jan;26(1):23-33. doi: 10.1542/pir.26-1-23. PMID: 15629904
Ponchon T, Pilleul F
Endoscopy 2002 Jan;34(1):29-42. doi: 10.1055/s-2002-19397. PMID: 11778128
Lamers CB
Acta Endocrinol Suppl (Copenh) 1987;286:19-25. doi: 10.1530/acta.0.115s019. PMID: 2892334

Prognosis

Ma MX, John M, Forbes GM
Expert Rev Gastroenterol Hepatol 2013 Sep;7(7):643-55. doi: 10.1586/17474124.2013.834125. PMID: 24070155
Duong M, Dinoulos JG, Gupta A, Bryk T, Saps M, Di Lorenzo C, Sveen A, Waseem M, Kin LL
Pediatr Rev 2005 Jan;26(1):23-33. doi: 10.1542/pir.26-1-23. PMID: 15629904
Levy MJ, Geenen JE
Am J Gastroenterol 2001 Sep;96(9):2540-55. doi: 10.1111/j.1572-0241.2001.04098.x. PMID: 11569674
Offerhaus GJ, Entius MM, Giardiello FM
Hepatogastroenterology 1999 Mar-Apr;46(26):667-9. PMID: 10370594
Balistreri WF
J Pediatr 1985 Feb;106(2):171-84. doi: 10.1016/s0022-3476(85)80282-1. PMID: 3881579

Clinical prediction guides

Covantev S, Mazuruc N, Belic O
Folia Med (Plovdiv) 2021 Dec 31;63(6):994-999. doi: 10.3897/folmed.63.e58669. PMID: 35851242
Osborne NG, Bonilla-Musoles F, Machado LE, Raga F, Bonilla F Jr, Ruiz F, Pérez Guardia CM, Ahluwalia B
J Ultrasound Med 2011 Jun;30(6):833-41. doi: 10.7863/jum.2011.30.6.833. PMID: 21632999
Singal AK, Ramu C, Paul S, Matthai J
J Pediatr Surg 2009 Feb;44(2):e5-7. doi: 10.1016/j.jpedsurg.2008.10.075. PMID: 19231521
Offerhaus GJ, Entius MM, Giardiello FM
Hepatogastroenterology 1999 Mar-Apr;46(26):667-9. PMID: 10370594
Kobayashi K, Asakura H, Shinozawa T, Yoshida S, Ichikawa Y, Tsuchiya M, Brown WR
Dig Dis Sci 1989 Dec;34(12):1924-8. doi: 10.1007/BF01536713. PMID: 2689113

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
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
Chung PH, Wong CW, Ip DK, Tam PK, Wong KK
J Pediatr Surg 2017 Mar;52(3):498-503. Epub 2016 Aug 30 doi: 10.1016/j.jpedsurg.2016.08.010. PMID: 27622585
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...