What causes Prader-Willi syndrome (PWS)?

Updated: Oct 10, 2018
  • Author: Ann Scheimann, MD, MBA; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
  • Print
Answer

See the list below:

  • Prader-Willi syndrome is due to the loss of the paternal copy of chromosome 15q11.2-13. [4]

  • Most cases of Prader-Willi syndrome are sporadic. More than 70% of patients have a deletion of the paternal copy; approximately 25% of patients with Prader-Willi syndrome have maternal uniparental disomy in chromosome 15. The remainder of patients with this disorder have a translocation or other structural alteration in chromosome 15.

  • Most manifestations of Prader-Willi syndrome are attributable to hypothalamic dysfunction.


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