Gene responsible for Carey-Fineman-Ziter Syndrome has been identified!

NIH and collaborators identify the genomic cause for Carey-Fineman-Ziter syndrome

Rare disease research uncovers new mechanism underlying muscle development

Bethesda, Maryland, Thurs., July 6, 2017 - An international team of researchers has identified genomic mutations for Carey-Fineman-Ziter (CFZS) syndrome, a very rare congenital myopathy (inherited muscle disorder) characterized by facial weakness...  Read More

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Nature Communications 8, Article number: 16077 (2017)

doi:10.1038/ncomms16077...  Read More

  Copyright Cody Hanson 2017

  The content of this website is intended for informational purposes only. This site is intended

  to raise awareness of the syndrome and give parents, patients, and the medical

  community a place to gain some answers.Contact a qualified medical professional for

  proper diagnosis and treatments.