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Abnormal abdomen morphology

MedGen UID:
866551
Concept ID:
C4020869
Anatomical Abnormality
Synonyms: Abdomen abnormality; Abnormality of abdomen morphology; Abnormality of abdomen structure; Abnormality of the abdomen
 
HPO: HP:0001438

Definition

A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. [from HPO]

Conditions with this feature

Mucolipidosis type IV
MedGen UID:
68663
Concept ID:
C0238286
Disease or Syndrome
Mucolipidosis IV (MLIV) is an ultra-rare lysosomal storage disorder characterized by severe psychomotor delay, progressive visual impairment, and achlorhydria. Individuals with MLIV typically present by the end of the first year of life with delayed developmental milestones (due to a developmental brain abnormality) and impaired vision (resulting from a combination of corneal clouding and retinal degeneration). By adolescence, all individuals with MLIV have severe visual impairment. A neurodegenerative component of MLIV has become more widely appreciated, with the majority of individuals demonstrating progressive spastic quadriparesis and loss of psychomotor skills starting in the second decade of life. About 5% of individuals have atypical MLIV, manifesting with less severe psychomotor impairment, but still exhibiting progressive retinal degeneration and achlorhydria.
Jejunal atresia
MedGen UID:
75603
Concept ID:
C0266175
Congenital Abnormality
Jejunal atresia is the most common cause of bowel obstruction in the newborn. In this condition, because of agenesis of the mesentery, the distal small bowel comes straight off the caecum and twists around the marginal artery, suggesting a maypole, a Christmas tree, or an apple peel at operation. Obliteration of the superior mesenteric artery may underlie this malformation.
Isolated agenesis of gallbladder
MedGen UID:
82736
Concept ID:
C0266251
Congenital Abnormality
A developmental defect in which the gallbladder fails to form.
Tryptophan malabsorption syndrome
MedGen UID:
75685
Concept ID:
C0268478
Disease or Syndrome
Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria.
Juberg-Hayward syndrome
MedGen UID:
162906
Concept ID:
C0796099
Disease or Syndrome
Juberg-Hayward syndrome (JHS) is characterized by cleft lip and palate, rhizomelia of the upper limbs with limited elbow extension due to humeroradial synostosis or dislocation of the radial head, and digital anomalies, including shortened thumbs and index and fifth fingers. Microcephaly has been observed in some patients (Kantaputra et al., 2020).
Polyposis syndrome, hereditary mixed, 1
MedGen UID:
331320
Concept ID:
C1832587
Disease or Syndrome
The hereditary mixed polyposis syndrome (HMPS) is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas (CRC). Genetic Heterogeneity of Hereditary Mixed Polyposis HMPS2 (610069) is caused by mutation in the BMPR1A gene (601299) on chromosome 10q23.
Pancreatic beta cell agenesis with neonatal diabetes mellitus
MedGen UID:
325072
Concept ID:
C1838655
Disease or Syndrome
Graves disease, susceptibility to, 1
MedGen UID:
341307
Concept ID:
C1848795
Finding
Graves disease (GRD) is an autoimmune disorder in which antibodies to the thyrotropin receptor (TSHR; 603372) result in constitutive activation of the receptor and increased levels of thyroid hormone. Wilkin (1990) reviewed endocrine disorders of hormone excess and hormone deficiency resulting from receptor autoimmunity. Genetic Heterogeneity of Graves Disease Susceptibility to Graves disease-1 (GRD1) has been mapped to chromosome 14q31. Other susceptibility loci for Graves disease include GRD2 (603388) on chromosome 20q13, GRDX1 (300351) on Xp11, and GRDX2 (see 300351) on Xq21.33-q22. Graves disease has also been mapped to several loci that confer susceptibility to autoimmune thyroid diseases, including Hashimoto thyroiditis (HT; 140300): AITD1 (608173) on 6p11; AITD2 (608174) on 5q31-q33; AITD3 (608175) on 8q24; AITD4 (608176) on 10q, and AITD5 (601941) on 18q21.
Teratoma, pineal
MedGen UID:
336449
Concept ID:
C1848902
Neoplastic Process
Parana hard-skin syndrome
MedGen UID:
337964
Concept ID:
C1850079
Disease or Syndrome
A rare genetic skin disorder with characteristics of very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974.
Cooper-Jabs syndrome
MedGen UID:
347912
Concept ID:
C1859591
Disease or Syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987.
Scleroderma, familial progressive
MedGen UID:
356661
Concept ID:
C1866983
Disease or Syndrome
Systemic sclerosis is a clinically heterogeneous connective tissue disorder characterized by immune activation, vascular damage, and fibrosis of the skin and major internal organs. Clinical and experimental data suggest that the disorder is multifactorial, involving both genetic and environmental factors (Fonseca et al., 2007). Gabrielli et al. (2009) provided a detailed review of scleroderma, including clinical manifestations and pathophysiology. See also Reynolds syndrome (613471), which shares some clinical features with scleroderma and CREST syndrome.
COACH syndrome 1
MedGen UID:
1769861
Concept ID:
C5435651
Disease or Syndrome
Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene.
Developmental delay, impaired speech, and behavioral abnormalities
MedGen UID:
1794167
Concept ID:
C5561957
Disease or Syndrome
Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).

Professional guidelines

PubMed

Liu YP, Huang YL, Tsai PS, Lin DC, Chen CP
Taiwan J Obstet Gynecol 2021 Jan;60(1):13-19. doi: 10.1016/j.tjog.2020.11.003. PMID: 33494985
De Laet IE, Malbrain MLNG, De Waele JJ
Crit Care 2020 Mar 24;24(1):97. doi: 10.1186/s13054-020-2782-1. PMID: 32204721Free PMC Article
Basurto D, Russo FM, Van der Veeken L, Van der Merwe J, Hooper S, Benachi A, De Bie F, Gomez O, Deprest J
Best Pract Res Clin Obstet Gynaecol 2019 Jul;58:93-106. Epub 2019 Jan 5 doi: 10.1016/j.bpobgyn.2018.12.010. PMID: 30772144

Recent clinical studies

Etiology

Chuaire Noack L
Colomb Med (Cali) 2021 Jul-Sep;52(3):e4004227. Epub 2021 Sep 30 doi: 10.25100/cm.v52i3.4227. PMID: 35431359Free PMC Article
Khan FA, Hashmi A, Islam S
Semin Pediatr Surg 2019 Apr;28(2):80-83. Epub 2019 Apr 6 doi: 10.1053/j.sempedsurg.2019.04.003. PMID: 31072462
Kandasamy D, Sharma R, Gupta AK
Indian J Pediatr 2019 Sep;86(9):805-816. Epub 2019 Feb 14 doi: 10.1007/s12098-019-02877-9. PMID: 30767163
Beaudoin S
Semin Pediatr Surg 2018 Oct;27(5):283-288. Epub 2018 Aug 27 doi: 10.1053/j.sempedsurg.2018.08.005. PMID: 30413258
Taghavi K, Mushtaq I
J Pediatr Urol 2018 Apr;14(2):196-197. Epub 2018 Mar 7 doi: 10.1016/j.jpurol.2018.02.010. PMID: 29551554

Diagnosis

Khan FA, Raymond SL, Hashmi A, Islam S
Semin Pediatr Surg 2022 Dec;31(6):151230. Epub 2022 Nov 16 doi: 10.1016/j.sempedsurg.2022.151230. PMID: 36446303
Liu YP, Huang YL, Tsai PS, Lin DC, Chen CP
Taiwan J Obstet Gynecol 2021 Jan;60(1):13-19. doi: 10.1016/j.tjog.2020.11.003. PMID: 33494985
Kandasamy D, Sharma R, Gupta AK
Indian J Pediatr 2019 Sep;86(9):805-816. Epub 2019 Feb 14 doi: 10.1007/s12098-019-02877-9. PMID: 30767163
Kieliszak CR, Pollinger TH, Tollefson MM, Griffin JR
J Am Acad Dermatol 2015 Jun;72(6):1066-73. Epub 2015 Apr 1 doi: 10.1016/j.jaad.2015.02.1100. PMID: 25840731
Buehner M, Baker MS
Surg Gynecol Obstet 1992 Oct;175(4):373-87. PMID: 1411897

Therapy

Srisajjakul S, Prapaisilp P, Bangchokdee S
Clin Imaging 2023 Feb;94:116-124. Epub 2022 Dec 10 doi: 10.1016/j.clinimag.2022.12.001. PMID: 36527797
Chirica M, Kelly MD, Siboni S, Aiolfi A, Riva CG, Asti E, Ferrari D, Leppäniemi A, Ten Broek RPG, Brichon PY, Kluger Y, Fraga GP, Frey G, Andreollo NA, Coccolini F, Frattini C, Moore EE, Chiara O, Di Saverio S, Sartelli M, Weber D, Ansaloni L, Biffl W, Corte H, Wani I, Baiocchi G, Cattan P, Catena F, Bonavina L
World J Emerg Surg 2019;14:26. Epub 2019 May 31 doi: 10.1186/s13017-019-0245-2. PMID: 31164915Free PMC Article
Basurto D, Russo FM, Van der Veeken L, Van der Merwe J, Hooper S, Benachi A, De Bie F, Gomez O, Deprest J
Best Pract Res Clin Obstet Gynaecol 2019 Jul;58:93-106. Epub 2019 Jan 5 doi: 10.1016/j.bpobgyn.2018.12.010. PMID: 30772144
Singhal M, Krishna S, Lal A, Narayanasamy S, Bal A, Yadav TD, Kochhar R, Sinha SK, Khandelwal N, Sheikh AM
Radiographics 2019 Jan-Feb;39(1):62-77. Epub 2018 Dec 7 doi: 10.1148/rg.2019180108. PMID: 30526331
Georgas K, Belgrano V, Andreasson M, Elander A, Selvaggi G
J Plast Surg Hand Surg 2018 Oct;52(5):265-273. Epub 2018 Jul 24 doi: 10.1080/2000656X.2018.1482220. PMID: 30039726

Prognosis

Singhal M, Krishna S, Lal A, Narayanasamy S, Bal A, Yadav TD, Kochhar R, Sinha SK, Khandelwal N, Sheikh AM
Radiographics 2019 Jan-Feb;39(1):62-77. Epub 2018 Dec 7 doi: 10.1148/rg.2019180108. PMID: 30526331
Taghavi K, Mushtaq I
J Pediatr Urol 2018 Apr;14(2):196-197. Epub 2018 Mar 7 doi: 10.1016/j.jpurol.2018.02.010. PMID: 29551554
Hong CW, Fazeli Dehkordy S, Hooker JC, Hamilton G, Sirlin CB
Top Magn Reson Imaging 2017 Dec;26(6):221-227. doi: 10.1097/RMR.0000000000000141. PMID: 29176468Free PMC Article
Kieliszak CR, Pollinger TH, Tollefson MM, Griffin JR
J Am Acad Dermatol 2015 Jun;72(6):1066-73. Epub 2015 Apr 1 doi: 10.1016/j.jaad.2015.02.1100. PMID: 25840731
Hutson JM, Balic A, Nation T, Southwell B
Semin Pediatr Surg 2010 Aug;19(3):215-24. doi: 10.1053/j.sempedsurg.2010.04.001. PMID: 20610195

Clinical prediction guides

Kim JH, Kinugasa Y, Hwang SE, Murakami G, Rodríguez-Vázquez JF, Cho BH
Surg Radiol Anat 2015 Mar;37(2):187-97. Epub 2014 Jul 10 doi: 10.1007/s00276-014-1336-0. PMID: 25008480
Yoo SJ, Prsa M, Schantz D, Grosse-Wortmann L, Seed M, Kim TK, Wald R, Chaturvedi R
Int J Cardiovasc Imaging 2014 Aug;30(6):1065-72. Epub 2014 Apr 22 doi: 10.1007/s10554-014-0424-x. PMID: 24752955
Prefumo F, Izzi C
Best Pract Res Clin Obstet Gynaecol 2014 Apr;28(3):391-402. Epub 2013 Dec 3 doi: 10.1016/j.bpobgyn.2013.10.003. PMID: 24342556
Pham SB, Hong MK, Teague JA, Hutson JM
Pediatr Surg Int 2005 Apr;21(4):231-9. Epub 2005 Mar 9 doi: 10.1007/s00383-005-1364-2. PMID: 15756559
Samuel M
J Pediatr Surg 2002 Jun;37(6):877-81. doi: 10.1053/jpsu.2002.32893. PMID: 12037754

Recent systematic reviews

Georgas K, Belgrano V, Andreasson M, Elander A, Selvaggi G
J Plast Surg Hand Surg 2018 Oct;52(5):265-273. Epub 2018 Jul 24 doi: 10.1080/2000656X.2018.1482220. PMID: 30039726
Teter KA, Maldonado TM, Adelman MA
J Vasc Surg Venous Lymphat Disord 2018 May;6(3):408-413. doi: 10.1016/j.jvsv.2017.11.014. PMID: 29661366
Smith FM, Ahad A, Perez RO, Marks J, Bujko K, Heald RJ
Dis Colon Rectum 2017 Feb;60(2):228-239. doi: 10.1097/DCR.0000000000000749. PMID: 28059920
Robert Peter J, Ho JJ, Valliapan J, Sivasangari S
Cochrane Database Syst Rev 2015 Sep 8;2015(9):CD008136. doi: 10.1002/14651858.CD008136.pub3. PMID: 26346107Free PMC Article
Claro F Jr, Sarian LO, Pinto-Neto AM
Ann Surg Oncol 2015 Aug;22(8):2540-50. Epub 2015 Jan 9 doi: 10.1245/s10434-014-4328-8. PMID: 25572679

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