What is Carey Fineman Ziter Syndrome?

 

In 1982 Dr's John Carey, Robert Fineman, and Fred Ziter, all of the University of Utah, described two siblings who had a recognizable and unique condition consisting of growth delays, facial weakness, (similar to Moebius syndrome), eye movement difficulties, (ophthalmoplegia), neuromuscular findings, and the Pierre Robin form of cleft palate. The article was written as part of a series of papers in the "Journal of Pediatrics" honoring a pioneer in the field of birth defects, Dr. David Smith.

("Carey JC, Fineman RM, Ziter FA. The Robin Sequence as a feature of malformation, dysplasia, and neuromuscular conditions. J Pediatr 101:858-864, 1982")

The condition has come to be called the Carey-Fineman-Ziter syndrome or CFZ syndrome. As of 2017 less than 10 people have been diagnosed as having CFZ, with Tonya and Cody being the first two.

 

Because of the occurrence in two siblings of different gender, the underlying basis of the CFZ syndrome has always been considered to be genetic, of autosomal recessive inheritance.

 

The major challenges of CFZ include the listed difficulties above and the presence of significant scoliosis in later childhood. The feeding and breathing problems in early infancy are particularly noteworthy for young children at diagnosis. The facial weakness and neurological symptoms are also concerning and require guidance from multiple medical specialists.

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  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.

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