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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
Tan YW, Yin KN, Chua AYT, Cleeve S, Misra D
Pediatr Surg Int 2020 Aug;36(8):933-940. Epub 2020 Jun 1 doi: 10.1007/s00383-020-04687-z. PMID: 32488402
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

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
Mitani Y, Kubota A, Goda T, Takifuji K, Iwamoto R, Kawai M
J Pediatr Surg 2023 Jul;58(7):1269-1273. Epub 2023 Feb 15 doi: 10.1016/j.jpedsurg.2023.01.061. PMID: 36907769
Tan YW, Yin KN, Chua AYT, Cleeve S, Misra D
Pediatr Surg Int 2020 Aug;36(8):933-940. Epub 2020 Jun 1 doi: 10.1007/s00383-020-04687-z. PMID: 32488402
Burjonrappa S, Youssef S, Lapierre S, Bensoussan A, Bouchard S
J Pediatr Surg 2010 Apr;45(4):762-8. doi: 10.1016/j.jpedsurg.2009.10.043. PMID: 20385284
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

Diagnosis

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
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
Desprez C, Bridoux V, Leroi AM
J Visc Surg 2022 Mar;159(1S):S40-S50. Epub 2022 Feb 2 doi: 10.1016/j.jviscsurg.2021.12.004. PMID: 35123906
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
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
Siminas S, Losty PD
Ann Surg 2015 Dec;262(6):925-33. doi: 10.1097/SLA.0000000000001191. PMID: 25775070
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
Gattuso JM, Kamm MA
Aliment Pharmacol Ther 1993 Oct;7(5):487-500. doi: 10.1111/j.1365-2036.1993.tb00124.x. PMID: 8280817

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
Stewart J, Kumar D, Keighley MR
Br J Surg 1994 Jul;81(7):1051-3. doi: 10.1002/bjs.1800810742. PMID: 7922062
Stabile G, Kamm MA, Hawley PR, Lennard-Jones JE
Int J Colorectal Dis 1992 Jun;7(2):82-4. doi: 10.1007/BF00341291. PMID: 1613299
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

Divya G, Kundal VK, Debnath PR, Addagatla R, Garbhapu AK, Sen A, Saha AK, Meena AK, Shah S, Syal S, Khanna C, Dotikalkar R, Gautam V
Pediatr Surg Int 2021 Apr;37(4):451-456. Epub 2021 Jan 15 doi: 10.1007/s00383-020-04843-5. PMID: 33449157
De la Torre-Mondragón L, Bañuelos-Castañeda C, Santos-Jasso K, Ruiz-Montañez A
J Pediatr Surg 2015 Sep;50(9):1560-2. Epub 2015 May 27 doi: 10.1016/j.jpedsurg.2015.05.004. PMID: 26071179
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
Gattuso JM, Smith VV, Kamm MA
Histopathology 1998 Jul;33(1):34-8. doi: 10.1046/j.1365-2559.1998.00438.x. PMID: 9726046
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

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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