deafness-small bowel diverticulosis-neuropathy syndrome
MeSH: C537305ORPHA: 3217
Overview
Deafness-small bowel diverticulosis-neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis)
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with deafness-small bowel diverticulosis-neuropathy syndrome, sourced from HPO and Orphanet clinical annotations.
Sensorineural hearing impairmentMalabsorptionChronic diarrheaHemiplegiaSteatorrheaDuodenal ulcerEMG abnormalityCachexiaPtosisAbnormality of the pharynxHyporeflexiaAbnormal speech patternAbnormality of eye movementCutaneous photosensitivityBrachydactylyShort palm
Classification & Codes
MeSH Code
C537305Orphanet Code
ORPHA:3217deafness-small bowel diverticulosis-neuropathy syndrome
| MeSH | C537305 |
| Orphanet | ORPHA:3217 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO