Cayler Cardiofacial Syndrome

Clinical Features

Top most frequent phenotypes and symptoms related to Cayler Cardiofacial Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Sensorineural hearing impairment

And another 80 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.

Alternative names

Cayler Cardiofacial Syndrome Is also known as depressor anguli oris muscle, hypoplasia of, facial paresis, partial, unilateral, asymmetric crying facies, acf.

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.


Mendelian

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Cayler Cardiofacial Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

RIT1, SHOX, BRAF, SOS1, SPRY2, SRC, CD2AP, GAB2, CBL, SHOC2, SRCAP, SPRED1, ANKRD11, CRK, CRKL, EGFR, ERBB2, FGFR3, AKT1, HRAS , (...)

View the complete list with 24 more genes
Specificity
5 %
Genes
67 %
FoundationOneĀ® Heme.

By Foundation Medicine, Inc. (United States).

BCL6, BCL7A, ROS1, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, SF3B1, SRSF2, SGK1, FOXL2, BRAF, BRCA1, BRCA2, SMARCA1, SMARCA4, SMARCB1, ARID1A , (...)

View the complete list with 374 more genes
Specificity
1 %
Genes
67 %
Guardant360.

By Guardant Health (United States).

RHEB, RIT1, ROS1, BRAF, BRCA1, BRCA2, ARID1A, SMO, STK11, HNF1A, TERT, TP53, TSC1, VHL, CCND1, CCND2, CCNE1, FBXW7, CDH1, CDK4 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
34 %
OmniSeq Comprehensive.

By OmniSeq, Inc. (United States).

RHEB, BCL9, ROS1, RPS6KB1, SF3B1, FOXL2, BRAF, BRCA1, BRCA2, SMARCB1, SMO, SOX2, SPOP, SRC, BTK, STAT3, STK11, HNF1A, TERT, TIAF1 , (...)

View the complete list with 122 more genes
Specificity
1 %
Genes
34 %
Providence Personalized Medicine Panel - Solid Tumor.

By Providence Regional Laboratories Providence Health and Services (United States).

BCR, ROS1, RUNX1, SDHA, SDHB, SDHC, SDHD, SF3B1, SRSF2, FOXL2, BRAF, BRCA1, BRCA2, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMO, SOX2 , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. (United States).

BCL6, RIT1, BCL7A, BCR, ROS1, RPL5, RPS15, RPS6KB1, RUNX1, RXRA, BLM, SDHA, SDHB, SDHC, SDHD, SEC23B, SEMA3C, BMPR1A, SF3B1, SRSF2 , (...)

View the complete list with 555 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %
BCR/ABL p210 Quantitative Test.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

BCR
Specificity
100 %
Genes
34 %

We have 19 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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