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Megarectum

MedGen UID:
733483
Concept ID:
C1456333
Disease or Syndrome
HPO: HP:0025024

Definition

An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum. [from HPO]

Conditions with this feature

Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
MedGen UID:
1788942
Concept ID:
C5542341
Disease or Syndrome
X-linked multiple congenital anomalies-neurodevelopmental syndrome (MCAND) is an X-linked recessive congenital multisystemic disorder characterized by poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade. Pathogenetically, the disorder results from disrupted gene expression and signaling during embryogenesis, thus affecting multiple systems (summary by Tripolszki et al., 2021 and Beck et al., 2021). Beck et al. (2021) referred to the disorder as LINKED syndrome (LINKage-specific deubiquitylation deficiency-induced Embryonic Defects).

Professional guidelines

PubMed

Bharucha AE, Basilisco G, Malcolm A, Lee TH, Hoy MB, Scott SM, Rao SSC
Neurogastroenterol Motil 2022 Sep;34(9):e14335. Epub 2022 Feb 27 doi: 10.1111/nmo.14335. PMID: 35220645Free PMC Article
Cuda T, Gunnarsson R, de Costa A
BMC Gastroenterol 2018 Jan 31;18(1):25. doi: 10.1186/s12876-018-0753-7. PMID: 29385992Free PMC Article
Jennings PJ
Proc R Soc Med 1967 Aug;60(8):805-6. PMID: 6035412Free PMC Article

Recent clinical studies

Etiology

Wu K, Little RD, Long A, Khera A, Kamm MA, Basnayake C
Eur J Gastroenterol Hepatol 2023 May 1;35(5):550-552. Epub 2023 Mar 18 doi: 10.1097/MEG.0000000000002545. PMID: 36966769
Bellomo-Brandão MA, Collares EF, da-Costa-Pinto EA
Braz J Med Biol Res 2003 Oct;36(10):1391-6. Epub 2003 Sep 16 doi: 10.1590/s0100-879x2003001000016. PMID: 14502372
Chung YF, Eu KW, Nyam DC, Leong AF, Ho YH, Seow-Choen F
Br J Surg 1999 Feb;86(2):231-3. doi: 10.1046/j.1365-2168.1999.01034.x. PMID: 10100793
Verduron A, Devroede G, Bouchoucha M, Arhan P, Schang JC, Poisson J, Hémond M, Hébert M
Dig Dis Sci 1988 Sep;33(9):1164-74. doi: 10.1007/BF01535795. PMID: 3409803
Meunier P, Mollard P, Marechal JM
Gut 1976 Mar;17(3):224-7. doi: 10.1136/gut.17.3.224. PMID: 1269991Free PMC Article

Diagnosis

Bharucha AE, Basilisco G, Malcolm A, Lee TH, Hoy MB, Scott SM, Rao SSC
Neurogastroenterol Motil 2022 Sep;34(9):e14335. Epub 2022 Feb 27 doi: 10.1111/nmo.14335. PMID: 35220645Free PMC Article
Zarog MA, O'Leary DP, Levins KJ, Byrnes GJ
BMJ Case Rep 2018 Aug 8;2018 doi: 10.1136/bcr-2017-224097. PMID: 30093496Free PMC Article
Kouki S, Ben Mansoura W
BMJ Case Rep 2018 Jul 6;2018 doi: 10.1136/bcr-2018-224418. PMID: 29982179Free PMC Article
Andromanakos N, Skandalakis P, Troupis T, Filippou D
J Gastroenterol Hepatol 2006 Apr;21(4):638-46. doi: 10.1111/j.1440-1746.2006.04333.x. PMID: 16677147
Verduron A, Devroede G, Bouchoucha M, Arhan P, Schang JC, Poisson J, Hémond M, Hébert M
Dig Dis Sci 1988 Sep;33(9):1164-74. doi: 10.1007/BF01535795. PMID: 3409803

Therapy

Vilanova-Sanchez A, Levitt MA
Eur J Pediatr Surg 2020 Oct;30(5):413-419. Epub 2020 Sep 28 doi: 10.1055/s-0040-1716729. PMID: 32987436
Molina Infante J, Hernández Alonso M, Pérez Gallardo B, Martín Noguero E
Rev Esp Enferm Dig 2009 May;101(5):352-4. PMID: 19527081
Gladman MA, Scott SM, Lunniss PJ, Williams NS
Ann Surg 2005 Apr;241(4):562-74. doi: 10.1097/01.sla.0000157140.69695.d3. PMID: 15798457Free PMC Article
Bellomo-Brandão MA, Collares EF, da-Costa-Pinto EA
Braz J Med Biol Res 2003 Oct;36(10):1391-6. Epub 2003 Sep 16 doi: 10.1590/s0100-879x2003001000016. PMID: 14502372
Jennings PJ
Proc R Soc Med 1967 Aug;60(8):805-6. PMID: 6035412Free PMC Article

Prognosis

Villanueva MEP, Lopez MPJ, Onglao MAS
BMJ Case Rep 2021 Jun 29;14(6) doi: 10.1136/bcr-2020-240209. PMID: 34187804Free PMC Article
Gladman MA, Scott SM, Lunniss PJ, Williams NS
Ann Surg 2005 Apr;241(4):562-74. doi: 10.1097/01.sla.0000157140.69695.d3. PMID: 15798457Free PMC Article
Bellomo-Brandão MA, Collares EF, da-Costa-Pinto EA
Braz J Med Biol Res 2003 Oct;36(10):1391-6. Epub 2003 Sep 16 doi: 10.1590/s0100-879x2003001000016. PMID: 14502372
Chung YF, Eu KW, Nyam DC, Leong AF, Ho YH, Seow-Choen F
Br J Surg 1999 Feb;86(2):231-3. doi: 10.1046/j.1365-2168.1999.01034.x. PMID: 10100793
Verduron A, Devroede G, Bouchoucha M, Arhan P, Schang JC, Poisson J, Hémond M, Hébert M
Dig Dis Sci 1988 Sep;33(9):1164-74. doi: 10.1007/BF01535795. PMID: 3409803

Clinical prediction guides

Grossi U, Heinrich H, Di Tanna GL, Taylor SA, Vollebregt PF, Knowles CH, Scott SM
Dis Colon Rectum 2021 Nov 1;64(11):1385-1397. doi: 10.1097/DCR.0000000000001923. PMID: 33833142
van der Plas RN, Benninga MA, Staalman CR, Akkermans LM, Redekop WK, Taminiau JA, Buller HA
Arch Dis Child 2000 Jul;83(1):52-8. doi: 10.1136/adc.83.1.52. PMID: 10869000Free PMC Article
Chung YF, Eu KW, Nyam DC, Leong AF, Ho YH, Seow-Choen F
Br J Surg 1999 Feb;86(2):231-3. doi: 10.1046/j.1365-2168.1999.01034.x. PMID: 10100793
Verduron A, Devroede G, Bouchoucha M, Arhan P, Schang JC, Poisson J, Hémond M, Hébert M
Dig Dis Sci 1988 Sep;33(9):1164-74. doi: 10.1007/BF01535795. PMID: 3409803
CALLAGHAN RP, NIXON HH
Arch Dis Child 1964 Apr;39(204):153-7. doi: 10.1136/adc.39.204.153. PMID: 14131955Free PMC Article

Recent systematic reviews

Cuda T, Gunnarsson R, de Costa A
BMC Gastroenterol 2018 Jan 31;18(1):25. doi: 10.1186/s12876-018-0753-7. PMID: 29385992Free PMC Article
Siminas S, Losty PD
Ann Surg 2015 Dec;262(6):925-33. doi: 10.1097/SLA.0000000000001191. PMID: 25775070
Gladman MA, Scott SM, Lunniss PJ, Williams NS
Ann Surg 2005 Apr;241(4):562-74. doi: 10.1097/01.sla.0000157140.69695.d3. PMID: 15798457Free PMC Article

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