Cardiofaciocutaneous Syndrome 3; Cfc3

Description

Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures (Schulz et al., 2008).

Clinical Features

Top most frequent phenotypes and symptoms related to Cardiofaciocutaneous Syndrome 3; Cfc3

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive
  • Muscular hypotonia
  • Hypoplasia of the corpus callosum
  • Cardiomyopathy

And another 14 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Cardiofaciocutaneous Syndrome 3; Cfc3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MAP2K1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MAP2K1
Specificity
100 %
Genes
100 %
MAP2K1 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

MAP2K1
Specificity
100 %
Genes
100 %
MAP2K1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

MAP2K1
Specificity
100 %
Genes
100 %
MAP2K2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MAP2K1
Specificity
100 %
Genes
100 %
MAP2K2 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

MAP2K1
Specificity
100 %
Genes
100 %
MAP2K2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

MAP2K1
Specificity
100 %
Genes
100 %
PreSeek Non-invasive Prenatal Gene Sequencing Screen.

By Baylor Miraca Genetics Laboratories (United States).

RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)

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Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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