The Groll-Hirschowitz syndrome.
Two sisters showed a similar disorder with cachexia, sensory deafness, and upper gastrointestinal abnormalities. The family pedigree suggests autosomal recessive inheritance of the disorder. Demyelinization demonstrated by a peripheral nerve biopsy may explain the basis for the manifestations. Only one family with this unique syndrome has been reported in the literature. The term "The Groll-Hirschowitz Syndrome" has been suggested, named after the two physicians who first described this condition.
D000328:Adult; D002100:Cachexia / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D003711:Demyelinating Diseases / Q000235:genetics; D005260:Female; D005767:Gastrointestinal Diseases / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D013577:Syndrome