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deafness-small bowel diverticulosis-neuropathy syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

deafness-small bowel diverticulosis-neuropathy syndrome

MONDO:0009086

Also known as:Groll-Hirschowitz syndromedeafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathynerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy

Overview

Deafness-small bowel diverticulosis-neuropathy syndrome is characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis).

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Inner ear hearing loss (sensorineural hearing impairment), Malabsorption, Chronic diarrhea, and Hemiplegia and others; and common findings: Ptosis, Abnormality of the pharynx, Hyporeflexia, and Abnormal speech pattern. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Peripheral neuropathy, Hemiplegia, Hyporeflexia

Diagnosis

Biomarker and diagnostic research for deafness-small bowel diverticulosis-neuropathy syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 very common features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for deafness-small bowel diverticulosis-neuropathy syndrome.

200 publications have been identified in PubMed for deafness-small bowel diverticulosis-neuropathy syndrome. Kisho has analyzed 130 by research type. Research spans Review / Meta-Analysis (41%), Basic Science / Preclinical (37%), and Clinical Trial Publication (10%).

Research Type	Count	% of Total
Research summaries	53	41%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:221400

Orphanet

European rare disease database

Orphanet:3217

GARD

Genetic and Rare Diseases Info Center

GARD:2568

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

deafness-small bowel diverticulosis-neuropathy syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

deafness-small bowel diverticulosis-neuropathy syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications