Carey-fineman-ziter Syndrome; Cfzs

Description

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.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Carey-fineman-ziter Syndrome; Cfzs Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TMEM8C.

By Fulgent Genetics Fulgent Genetics in United States.

MYMK
Specificity
100 %
Genes
100 %

Alternate names

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



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HYDROLETHALUS SYNDROME 2; HLS2 ORTHOSTATIC INTOLERANCE EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54; EIEE54 BRUNNER SYNDROME; BRNRS ACHONDROGENESIS, TYPE IB; ACG1B

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more