font size

Definition of Vohwinkel syndrome

Vohwinkel syndrome: A genetic disorder characterized by hearing loss and thickened skin, particularly on the knuckles. The sensorineural hearing is mild-to-moderate in degree. The thickening of the skin (hyperkeratosis) can be "mutilating" and cause autoamputation of the digits. The syndrome is inherited in an autosomal dominant manner. It is caused by mutation in the GJB2 gene (connexin 26). The mutation is the replacement of aspartic acid with histidine at position 66 in the protein's chain of amino acids. This mutation is also written as Asp66His.

Source: MedTerms™ Medical Dictionary
http://www.medicinenet.com/script/main/art.asp?articlekey=34322
Last Editorial Review: 6/14/2012

Drug Medical Dictionary of Terms by Letter

Top RxList Drug News

Women's Health

Find out what women really need.

advertisement
advertisement
Use Pill Finder Find it Now See Interactions

Pill Identifier on RxList

  • quick, easy,
    pill identification

Find a Local Pharmacy

  • including 24 hour, pharmacies

Interaction Checker

  • Check potential drug interactions
Search the Medical Dictionary for Health Definitions & Medical Abbreviations

NIH talks about Ebola on WebMD