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Congenital short bowel syndrome, autosomal recessive

MedGen UID:: 979371
•Concept ID:: CN296805
•: Disease or Syndrome

Synonyms:	congenital short bowel syndrome 1; congenital short bowel syndrome due to CLMP variation; congenital short bowel syndrome, autosomal recessive

Gene (location): Gene(s) directly associated with this condition or phenotype.	CLMP (11q24.1)

Monarch Initiative:	MONDO:0020718
OMIM®:	615237

Definition

Infants with congenital short bowel syndrome (CSBS) are born with a shortened small intestine, with a mean length of 50 cm compared to the normal length of 190 to 280 cm, and intestinal malrotation. Severe malnutrition develops as a result of the hugely reduced absorptive surface of the small intestine, and infants require parenteral nutrition for survival; however, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life (summary by van der Werf et al., 2012). A possible form of congenital short bowel syndrome (see 300048) is caused by mutation in the FLNA gene (300017) on chromosome Xq28. [from OMIM]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital short bowel syndrome
- CROGVCongenital short bowel syndrome, autosomal recessive
- CROGVCongenital short bowel syndrome, X-linked

Non-syndromic intestinal malformation
- Congenital short bowel syndrome
  - Congenital short bowel syndrome, autosomal recessive

Professional guidelines

PubMed

Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.

Alves MM, Halim D, Maroofian R, de Graaf BM, Rooman R, van der Werf CS, Van de Vijver E, Mehrjardi MY, Aflatoonian M, Chioza BA, Baple EL, Dehghani M, Crosby AH, Hofstra RM
Eur J Hum Genet 2016 Nov;24(11):1627-1629. Epub 2016 Jun 29 doi: 10.1038/ejhg.2016.58. PMID: 27352967 Free PMC Article

See all (1)

Recent clinical studies

Etiology

Outcome associated with EPCAM founder mutation c.499dup in Qatar.

Hassan K, Sher G, Hamid E, Hazima KA, Abdelrahman H, Al Mudahka F, Al-Masri W, Sankar J, Daryaee M, Shawish R, Khan MA, Nawaz Z
Eur J Med Genet 2020 Oct;63(10):104023. Epub 2020 Jul 28 doi: 10.1016/j.ejmg.2020.104023. PMID: 32735948

HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.

Farrell SA, Sodhi S, Marshall CR, Guerin A, Slavotinek A, Paton T, Chong K, Sirkin WL, Scherer SW, Bérubé-Simard FA, Pilon N
Am J Med Genet A 2017 Nov;173(11):3070-3074. Epub 2017 Sep 12 doi: 10.1002/ajmg.a.38354. PMID: 28898547

Familial visceral neuropathy: a defined entity?

Roper EC, Gibson A, McAlindon ME, Williams LH, Cook JA, Kandler RH, Quarrell OW
Am J Med Genet A 2005 Sep 1;137A(3):249-54. doi: 10.1002/ajmg.a.30880. PMID: 16088914

Family studies of infantile visceral myopathy: a congenital myopathic pseudo-obstruction syndrome.

Guzé CD, Hyman PE, Payne VJ
Am J Med Genet 1999 Jan 15;82(2):114-22. doi: 10.1002/(sici)1096-8628(19990115)82:2<114::aid-ajmg3>3.0.co;2-h. PMID: 9934973

Familial apple peel jejunal atresia: surgical, genetic, and radiographic aspects.

Seashore JH, Collins FS, Markowitz RI, Seashore MR
Pediatrics 1987 Oct;80(4):540-4. PMID: 3309863

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Diagnosis

Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report.

Khan ZR, Karam A, Ul Haq MA, Aman A, Karam AS
J Med Case Rep 2022 Oct 3;16(1):363. doi: 10.1186/s13256-022-03582-6. PMID: 36192783 Free PMC Article

Congenital short bowel syndrome: systematic review of a rare condition.

Negri E, Coletta R, Morabito A
J Pediatr Surg 2020 Sep;55(9):1809-1814. Epub 2020 Mar 23 doi: 10.1016/j.jpedsurg.2020.03.009. PMID: 32278545

Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review.

Mc Laughlin D, Puri P
Pediatr Surg Int 2013 Sep;29(9):947-51. doi: 10.1007/s00383-013-3357-x. PMID: 23955298

Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.

van der Werf CS, Sribudiani Y, Verheij JB, Carroll M, O'Loughlin E, Chen CH, Brooks AS, Liszewski MK, Atkinson JP, Hofstra RM
Genet Med 2013 Apr;15(4):310-3. Epub 2012 Oct 4 doi: 10.1038/gim.2012.123. PMID: 23037936

Chronic intestinal pseudo-obstruction.

Antonucci A, Fronzoni L, Cogliandro L, Cogliandro RF, Caputo C, De Giorgio R, Pallotti F, Barbara G, Corinaldesi R, Stanghellini V
World J Gastroenterol 2008 May 21;14(19):2953-61. doi: 10.3748/wjg.14.2953. PMID: 18494042 Free PMC Article

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Therapy

Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement.

Bax BE, Bain MD, Scarpelli M, Filosto M, Tonin P, Moran N
Neurology 2013 Oct 1;81(14):1269-71. Epub 2013 Aug 21 doi: 10.1212/WNL.0b013e3182a6cb4b. PMID: 23966250 Free PMC Article

Chronic intestinal pseudo-obstruction.

See all (2)

Prognosis

Exploring the complexities of megacystis-microcolon-intestinal hypoperistalsis syndrome: insights from genetic studies.

Devavarapu PKV, Uppaluri KR, Nikhade VA, Palasamudram K, Sri Manjari K
Clin J Gastroenterol 2024 Jun;17(3):383-395. Epub 2024 Mar 9 doi: 10.1007/s12328-024-01934-x. PMID: 38461165

Consanguinity and its relevance for the incidence of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): systematic review.

Nakamura H, O'Donnell AM, Puri P
Pediatr Surg Int 2019 Feb;35(2):175-180. Epub 2018 Nov 1 doi: 10.1007/s00383-018-4390-6. PMID: 30386895

Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome Treated with Stem Cell Transplant: A Case Series and Literature Review.

Hanbali A, Rasheed W, Peedikayil MC, Boholega S, Alzahrani HA
Exp Clin Transplant 2018 Dec;16(6):773-778. Epub 2017 Apr 14 doi: 10.6002/ect.2016.0109. PMID: 28411356

HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.

Family studies of infantile visceral myopathy: a congenital myopathic pseudo-obstruction syndrome.

Guzé CD, Hyman PE, Payne VJ
Am J Med Genet 1999 Jan 15;82(2):114-22. doi: 10.1002/(sici)1096-8628(19990115)82:2<114::aid-ajmg3>3.0.co;2-h. PMID: 9934973

See all (20)

Clinical prediction guides

Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.

Billon C, Molin A, Poirsier C, Clemenson A, Dauge C, Grelet M, Sigaudy S, Patrier S, Goldenberg A, Layet V, Tantau J, Fleury C, Liard A, Diguet A, Fritih R, Verspyck E, Rendu J, Boutaud L, Tessier A, Thomas S, Razavi F, Achaiaa A, Elkhartoufi N, Hakkakian L, Magnin E, Bôle-Feysot C, Masson C, Ville Y, Roth P, Prieur F, Bessieres B, Bonniere M, Attie-Bitach T
Clin Genet 2020 Sep;98(3):261-273. Epub 2020 Aug 4 doi: 10.1111/cge.13801. PMID: 32621347

HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.

Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.

Moreno CA, Metze K, Lomazi EA, Bertola DR, Barbosa RH, Cosentino V, Sobreira N, Cavalcanti DP
Am J Med Genet A 2016 Nov;170(11):2965-2974. Epub 2016 Aug 2 doi: 10.1002/ajmg.a.37857. PMID: 27481187 Free PMC Article

Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.

Moore SW
Pediatr Surg Int 2012 Nov;28(11):1045-58. Epub 2012 Sep 23 doi: 10.1007/s00383-012-3175-6. PMID: 23001136

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.

Garone C, Tadesse S, Hirano M
Brain 2011 Nov;134(Pt 11):3326-32. Epub 2011 Sep 20 doi: 10.1093/brain/awr245. PMID: 21933806 Free PMC Article

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