Which physical findings are characteristic of Chédiak-Higashi syndrome (CHS)?

Updated: Aug 08, 2019
  • Author: Roman J Nowicki, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
  • Print
Answer

The clinical features of Chédiak-Higashi syndrome (CHS) include partial albinism, photosensitivity, severe recurrent bacterial infections, bleeding diatheses, and late-onset neurological manifestations (central and peripheral neuropathies, sensory loss, muscle weakness, parkinsonism, cerebellar ataxia, and cognitive impairment). [5]


Did this answer your question?
Additional feedback? (Optional)
Thank you for your feedback!