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Congenital short bowel syndrome(CSBS)

MedGen UID:: 1784105
•Concept ID:: C5441717
•: Disease or Syndrome

Synonym:	CSBS
SNOMED CT:	Congenital short bowel syndrome (715201005)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record Autosomal recessive inheritance (Orphanet) X-linked recessive inheritance (Orphanet)

Related gene: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	CLMP

Monarch Initiative:	MONDO:0014097
OMIM®:	611693; 615237
Orphanet:	ORPHA2301

Definition

A rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive. [from SNOMEDCT_US]

Clinical features

From HPO

Failure to thrive

MedGen UID:: 746019
•Concept ID:: C2315100
•: Disease or Syndrome

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.

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Abdominal distention

MedGen UID:: 34
•Concept ID:: C0000731
•: Finding

Distention of the abdomen.

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Intestinal atresia

MedGen UID:: 7129
•Concept ID:: C0021828
•: Disease or Syndrome

An abnormal closure, or atresia of the tubular structure of the intestine.

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Steatorrhea

MedGen UID:: 20948
•Concept ID:: C0038238
•: Finding

Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.

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Vomiting

MedGen UID:: 12124
•Concept ID:: C0042963
•: Sign or Symptom

Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.

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Projectile vomiting

MedGen UID:: 67442
•Concept ID:: C0221151
•: Sign or Symptom

Vomiting that ejects the gastric contents with great force.

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Intestinal malrotation

MedGen UID:: 113153
•Concept ID:: C0221210
•: Congenital Abnormality

An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.

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Chronic diarrhea

MedGen UID:: 96036
•Concept ID:: C0401151
•: Finding

The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.

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Abnormal peristalsis

MedGen UID:: 713370
•Concept ID:: C1291045
•: Finding

An anomaly of the wave-like muscle contractions of the digestive tract.

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Decreased intestinal transit time

MedGen UID:: 892300
•Concept ID:: C3805050
•: Finding

A reduction in the length of time required for food to pass through the intestines.

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Congenital shortened small intestine

MedGen UID:: 927596
•Concept ID:: C4293687
•: Congenital Abnormality

Substantially shortened length of the small intestine as a result of a developmental defect.

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Dehydration

MedGen UID:: 8273
•Concept ID:: C0011175
•: Disease or Syndrome

A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.

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Metabolic acidosis

MedGen UID:: 65117
•Concept ID:: C0220981
•: Pathologic Function

Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.

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Intolerance to protein

MedGen UID:: 234665
•Concept ID:: C1396243
•: Disease or Syndrome

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Term Hierarchy

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
  - Congenital short bowel syndrome, X-linked

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

Causes and management of intestinal failure in children.

Goulet O, Ruemmele F
Gastroenterology 2006 Feb;130(2 Suppl 1):S16-28. doi: 10.1053/j.gastro.2005.12.002. PMID: 16473066

See all (2)

Recent clinical studies

Etiology

Congenital Short-Bowel Syndrome: Clinical and Genetic Presentation in China.

Wang Y, Chen S, Yan W, Lu L, Tao Y, Xiao Y, Cai W
JPEN J Parenter Enteral Nutr 2021 Jul;45(5):1009-1015. Epub 2020 Aug 20 doi: 10.1002/jpen.1974. PMID: 33464596

Congenital short bowel syndrome: report of a case treated with home central parenteral nutrition.

Wu TJ, Teng RJ, Chang MH, Chen CC
J Formos Med Assoc 1992 Apr;91(4):470-2. PMID: 1358321

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Diagnosis

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

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

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

Congenital short bowel syndrome: a case report and review of the literature.

Hasosah M, Lemberg DA, Skarsgard E, Schreiber R
Can J Gastroenterol 2008 Jan;22(1):71-4. doi: 10.1155/2008/590143. PMID: 18209785 Free PMC Article

Synovial lipomatosis (lipoma arborescens) affecting multiple joints in a patient with congenital short bowel syndrome.

Siva C, Brasington R, Totty W, Sotelo A, Atkinson J
J Rheumatol 2002 May;29(5):1088-92. PMID: 12022328

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Therapy

Long-term outcome of a patient with congenital short bowel syndrome.

Ordonez P, Sondheimer JM, Fidanza S, Wilkening G, Hoffenberg EJ
J Pediatr Gastroenterol Nutr 2006 May;42(5):576-80. doi: 10.1097/01.mpg.0000189360.84169.da. PMID: 16707984

Successful pregnancy following maternal small bowel reconstruction for congenital short bowel syndrome.

Byrd LM, Johnston TA, Bianchi A
BJOG 2006 Jan;113(1):117-9. doi: 10.1111/j.1471-0528.2005.00786.x. PMID: 16398781

Congenital short bowel syndrome with malrotation.

Chu SM, Luo CC, Chou YH, Yen JB
Chang Gung Med J 2004 Jul;27(7):548-50. PMID: 15508878

Gastrocolocutaneous fistula in a child with congenital short bowel syndrome: a rare complication of percutaneous endoscopic gastrostomy.

Chen Y, Ni YH, Lai HS
J Formos Med Assoc 2004 Apr;103(4):306-10. PMID: 15175828

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Prognosis

Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome.

Gonnaud L, Alves MM, Cremillieux C, Billiemaz K, Destombe S, Varlet F, Lopez M, Trapes L, Touraine R, Hofstra RM, Patural H
Clin Res Hepatol Gastroenterol 2016 Dec;40(6):e65-e67. Epub 2016 Oct 4 doi: 10.1016/j.clinre.2015.12.018. PMID: 27720179

Ectopic drainage of the common bile duct into the lesser curvature of the gastric antrum in a newborn with pyloric atresia, annular pancreas and congenital short bowel syndrome.

Scheida N, Wales PW, Krishnamurthy G, Chait PG, Amaral JG
Pediatr Radiol 2009 Jan;39(1):66-9. Epub 2008 Sep 26 doi: 10.1007/s00247-008-1008-5. PMID: 18818913

Congenital short bowel syndrome associated with appendiceal agenesis and functional intestinal obstruction.

Sarimurat N, Celayir S, Elicevik M, Dervisoglu S, Yeker D
J Pediatr Surg 1998 Apr;33(4):666-7. doi: 10.1016/s0022-3468(98)90343-8. PMID: 9574778

Congenital short-bowel syndrome: prenatal sonographic findings of a fatal anomaly.

Aviram R, Erez I, Dolfin TZ, Katz S, Beyth Y, Tepper R
J Clin Ultrasound 1998 Feb;26(2):106-8. doi: 10.1002/(sici)1097-0096(199802)26:2<106::aid-jcu11>3.0.co;2-k. PMID: 9460641

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Clinical prediction guides

CXADR-Like Membrane Protein Regulates Colonic Epithelial Cell Proliferation and Prevents Tumor Growth.

Luissint AC, Fan S, Nishio H, Lerario AM, Miranda J, Hilgarth RS, Cook J, Nusrat A, Parkos CA
Gastroenterology 2024 Jan;166(1):103-116.e9. Epub 2023 Sep 14 doi: 10.1053/j.gastro.2023.09.012. PMID: 37716376

The IgCAM CLMP regulates expression of Connexin43 and Connexin45 in intestinal and ureteral smooth muscle contraction in mice.

Langhorst H, Jüttner R, Groneberg D, Mohtashamdolatshahi A, Pelz L, Purfürst B, Schmidt-Ott KM, Friebe A, Rathjen FG
Dis Model Mech 2018 Feb 22;11(2) doi: 10.1242/dmm.032128. PMID: 29361518 Free PMC Article

Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome.

Congenital short bowel syndrome with left acheiria: report of one case.

Lin JH, Chang MH, Teng RJ, Yau KI, Wang TR
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1997 Sep-Oct;38(5):393-5. PMID: 9401186

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