Carey-fineman-ziter Syndrome; Cfzs


Carey-Fineman-Ziter syndrome (CFZS) is a multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. More variable features include dysmorphic facial features, brain abnormalities, and intellectual disability. It has been postulated that many clinical features in CFZS may be secondary effects of muscle weakness during development or brainstem anomalies (summary by Pasetti et al., 2016).Di Gioia et al. (2017) determined that CFZS represents a slowly progressive congenital myopathy resulting from a defect in myoblast fusion.

Clinical Features

Top most frequent phenotypes and symptoms related to Carey-fineman-ziter Syndrome; Cfzs

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica
  • Microcephaly
  • Scoliosis
  • Growth delay
  • Micrognathia
  • Failure to thrive
And another 81 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Carey-fineman-ziter Syndrome; Cfzs Recommended genes panels

Panel Name, Specifity and genes Tested/covered

By Fulgent Genetics Fulgent Genetics in United States.

100 %
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Alternate names

Carey-fineman-ziter Syndrome; Cfzs Is also known as myopathy, congenital nonprogressive, with moebius sequence and robin sequence;myopathy-moebius-robin syndrome.

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