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Deafness-small bowel diverticulosis-neuropathy syndrome

MedGen UID:
347426
•Concept ID:
C1857338
•
Disease or Syndrome
Synonyms: Groll Hirschowitz syndrome; Nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy
SNOMED CT: Deafness, small bowel diverticulosis, neuropathy syndrome (733071009); Groll Hirschowitz syndrome (733071009)
 
Monarch Initiative: MONDO:0009086
OMIM®: 221400
Orphanet: ORPHA3217

Definition

Syndrome with characteristics of progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis). It has been described in five patients (three sisters in a family and two sisters born to consanguineous parents). This syndrome is transmitted as an autosomal recessive trait. [from SNOMEDCT_US]

Clinical features

From HPO
Tachycardia
MedGen UID:
21453
•Concept ID:
C0039231
•
Finding
A rapid heartrate that exceeds the range of the normal resting heartrate for age.
See: Feature record | Search on this feature
Small bowel diverticula
MedGen UID:
120601
•Concept ID:
C0267498
•
Disease or Syndrome
See: Feature record | Search on this feature
Fat malabsorption
MedGen UID:
108215
•Concept ID:
C0554103
•
Pathologic Function
Abnormality of the absorption of fat from the gastrointestinal tract.
See: Feature record | Search on this feature
Jejunoileal ulceration
MedGen UID:
870775
•Concept ID:
C4025232
•
Anatomical Abnormality
See: Feature record | Search on this feature
Sensorineural hearing loss disorder
MedGen UID:
9164
•Concept ID:
C0018784
•
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
See: Feature record | Search on this feature
Peripheral neuropathy
MedGen UID:
18386
•Concept ID:
C0031117
•
Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
See: Feature record | Search on this feature
Hypoproteinemia
MedGen UID:
581229
•Concept ID:
C0392692
•
Finding
A decreased concentration of protein in the blood.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeafness-small bowel diverticulosis-neuropathy syndrome
Follow this link to review classifications for Deafness-small bowel diverticulosis-neuropathy syndrome in Orphanet.

Professional guidelines

PubMed

Diagnosis and Treatment of Irritable Bowel Syndrome: A Review.
Camilleri M
JAMA 2021 Mar 2;325(9):865-877. doi: 10.1001/jama.2020.22532. PMID: 33651094
ACG Clinical Guideline: Management of Irritable Bowel Syndrome.
Lacy BE, Pimentel M, Brenner DM, Chey WD, Keefer LA, Long MD, Moshiree B
Am J Gastroenterol 2021 Jan 1;116(1):17-44. doi: 10.14309/ajg.0000000000001036. PMID: 33315591
Small Intestinal Bacterial Overgrowth: Clinical Features and Therapeutic Management.
Rao SSC, Bhagatwala J
Clin Transl Gastroenterol 2019 Oct;10(10):e00078. doi: 10.14309/ctg.0000000000000078. PMID: 31584459Free PMC Article

Recent clinical studies

Diagnosis

The Microbiota-Gut-Brain Axis: From Motility to Mood.
Margolis KG, Cryan JF, Mayer EA
Gastroenterology 2021 Apr;160(5):1486-1501. Epub 2021 Jan 22 doi: 10.1053/j.gastro.2020.10.066. PMID: 33493503Free PMC Article
Medical and surgical management of short bowel syndrome.
Billiauws L, Maggiori L, Joly F, Panis Y
J Visc Surg 2018 Sep;155(4):283-291. Epub 2018 Jul 21 doi: 10.1016/j.jviscsurg.2017.12.012. PMID: 30041905
Constipation: Pathophysiology and Current Therapeutic Approaches.
Sharma A, Rao S
Handb Exp Pharmacol 2017;239:59-74. doi: 10.1007/164_2016_111. PMID: 28185025
Irritable bowel syndrome.
Grayson M
Nature 2016 May 19;533(7603):S101. doi: 10.1038/533S101a. PMID: 27191484
Effectiveness of probiotics in irritable bowel syndrome: Updated systematic review with meta-analysis.
Didari T, Mozaffari S, Nikfar S, Abdollahi M
World J Gastroenterol 2015 Mar 14;21(10):3072-84. doi: 10.3748/wjg.v21.i10.3072. PMID: 25780308Free PMC Article

Therapy

Understanding short bowel syndrome: Current status and future perspectives.
Massironi S, Cavalcoli F, Rausa E, Invernizzi P, Braga M, Vecchi M
Dig Liver Dis 2020 Mar;52(3):253-261. Epub 2019 Dec 28 doi: 10.1016/j.dld.2019.11.013. PMID: 31892505
Small Intestinal Bacterial Overgrowth: Clinical Features and Therapeutic Management.
Rao SSC, Bhagatwala J
Clin Transl Gastroenterol 2019 Oct;10(10):e00078. doi: 10.14309/ctg.0000000000000078. PMID: 31584459Free PMC Article
Medical and surgical management of short bowel syndrome.
Billiauws L, Maggiori L, Joly F, Panis Y
J Visc Surg 2018 Sep;155(4):283-291. Epub 2018 Jul 21 doi: 10.1016/j.jviscsurg.2017.12.012. PMID: 30041905
The low FODMAP diet: recent advances in understanding its mechanisms and efficacy in IBS.
Staudacher HM, Whelan K
Gut 2017 Aug;66(8):1517-1527. Epub 2017 Jun 7 doi: 10.1136/gutjnl-2017-313750. PMID: 28592442
Constipation: Pathophysiology and Current Therapeutic Approaches.
Sharma A, Rao S
Handb Exp Pharmacol 2017;239:59-74. doi: 10.1007/164_2016_111. PMID: 28185025

Prognosis

Pediatric Intestinal Transplantation.
Celik N, Mazariegos GV, Soltys K, Rudolph JA, Shi Y, Bond GJ, Sindhi R, Ganoza A
Gastroenterol Clin North Am 2018 Jun;47(2):355-368. Epub 2018 Apr 4 doi: 10.1016/j.gtc.2018.01.007. PMID: 29735029
Short Bowel Syndrome and Intestinal Failure in Crohn's Disease.
Limketkai BN, Parian AM, Shah ND, Colombel JF
Inflamm Bowel Dis 2016 May;22(5):1209-18. doi: 10.1097/MIB.0000000000000698. PMID: 26818425
Short bowel syndrome.
Donohoe CL, Reynolds JV
Surgeon 2010 Oct;8(5):270-9. doi: 10.1016/j.surge.2010.06.004. PMID: 20709285
Small intestinal neoplasms.
Gill SS, Heuman DM, Mihas AA
J Clin Gastroenterol 2001 Oct;33(4):267-82. doi: 10.1097/00004836-200110000-00004. PMID: 11588539
Colonic polyps.
Ackroyd FW, Hedberg SE
Annu Rev Med 1985;36:619-25. doi: 10.1146/annurev.me.36.020185.003155. PMID: 3994327

Clinical prediction guides

Gastrointestinal function in critically ill patients.
Reintam Blaser A, Bachmann KF, Deane AM
Curr Opin Clin Nutr Metab Care 2023 Sep 1;26(5):463-469. Epub 2023 Jun 19 doi: 10.1097/MCO.0000000000000955. PMID: 37389469
Consumption of 2 Green Kiwifruits Daily Improves Constipation and Abdominal Comfort-Results of an International Multicenter Randomized Controlled Trial.
Gearry R, Fukudo S, Barbara G, Kuhn-Sherlock B, Ansell J, Blatchford P, Eady S, Wallace A, Butts C, Cremon C, Barbaro MR, Pagano I, Okawa Y, Muratubaki T, Okamoto T, Fuda M, Endo Y, Kano M, Kanazawa M, Nakaya N, Nakaya K, Drummond L
Am J Gastroenterol 2023 Jun 1;118(6):1058-1068. Epub 2022 Dec 20 doi: 10.14309/ajg.0000000000002124. PMID: 36537785Free PMC Article
Mucosal Biofilms Are an Endoscopic Feature of Irritable Bowel Syndrome and Ulcerative Colitis.
Baumgartner M, Lang M, Holley H, Crepaz D, Hausmann B, Pjevac P, Moser D, Haller F, Hof F, Beer A, Orgler E, Frick A, Khare V, Evstatiev R, Strohmaier S, Primas C, Dolak W, Köcher T, Klavins K, Rath T, Neurath MF, Berry D, Makristathis A, Muttenthaler M, Gasche C
Gastroenterology 2021 Oct;161(4):1245-1256.e20. Epub 2021 Jun 17 doi: 10.1053/j.gastro.2021.06.024. PMID: 34146566Free PMC Article
Low Anterior Resection Syndrome.
Nguyen TH, Chokshi RV
Curr Gastroenterol Rep 2020 Aug 4;22(10):48. doi: 10.1007/s11894-020-00785-z. PMID: 32749603Free PMC Article
Effectiveness of probiotics in irritable bowel syndrome: Updated systematic review with meta-analysis.
Didari T, Mozaffari S, Nikfar S, Abdollahi M
World J Gastroenterol 2015 Mar 14;21(10):3072-84. doi: 10.3748/wjg.v21.i10.3072. PMID: 25780308Free PMC Article

Recent systematic reviews

Efficacy of Probiotics in Irritable Bowel Syndrome: Systematic Review and Meta-analysis.
Goodoory VC, Khasawneh M, Black CJ, Quigley EMM, Moayyedi P, Ford AC
Gastroenterology 2023 Nov;165(5):1206-1218. Epub 2023 Aug 3 doi: 10.1053/j.gastro.2023.07.018. PMID: 37541528
Efficacy of Probiotics for Irritable Bowel Syndrome: A Systematic Review and Network Meta-Analysis.
Zhang T, Zhang C, Zhang J, Sun F, Duan L
Front Cell Infect Microbiol 2022;12:859967. Epub 2022 Apr 1 doi: 10.3389/fcimb.2022.859967. PMID: 35433498Free PMC Article
Efficacy of a low FODMAP diet in irritable bowel syndrome: systematic review and network meta-analysis.
Black CJ, Staudacher HM, Ford AC
Gut 2022 Jun;71(6):1117-1126. Epub 2021 Aug 10 doi: 10.1136/gutjnl-2021-325214. PMID: 34376515
Efficacy of a low-FODMAP diet in adult irritable bowel syndrome: a systematic review and meta-analysis.
van Lanen AS, de Bree A, Greyling A
Eur J Nutr 2021 Sep;60(6):3505-3522. Epub 2021 Feb 14 doi: 10.1007/s00394-020-02473-0. PMID: 33585949Free PMC Article
Efficacy of psychological therapies for irritable bowel syndrome: systematic review and network meta-analysis.
Black CJ, Thakur ER, Houghton LA, Quigley EMM, Moayyedi P, Ford AC
Gut 2020 Aug;69(8):1441-1451. Epub 2020 Apr 10 doi: 10.1136/gutjnl-2020-321191. PMID: 32276950

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