Deafness-small bowel diverticulosis-neuropathy syndrome

Orpha code: 3217OMIM code: 221400

Definition

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.

Disease data
Classification

Disease

Synonyms
Groll-Hirschowitz syndrome
Zespół Grolla i Hirschowitza
Hearing loss-small bowel diverticulosis-neuropathy syndrome
ORPHA code
3217
OMIM code
221400
ICD10 code
G60.8
ICD11 code
LD2H.Y

No additional description.

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