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.
Genes related to Carey-fineman-ziter Syndrome; Cfzs
- MYMK
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
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 |
|---|
|
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.
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