Deafness-small bowel diverticulosis-neuropathy syndrome

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Deafness-small bowel diverticulosis-neuropathy syndrome

Synonyms: Groll-Hirschowitz syndrome | Hearing loss-small bowel diverticulosis-neuropathy syndrome

A rare neurologic disease characterized by progressive sensorineural deafness progressive sensory neuropathy and gastrointestinal abnormalities including progressive loss of gastric motility and small bowel diverticulosis and ulcerations resulting in cachexia. Additonal neurological manifestations may include dysarthria and absent tendon reflexes as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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