Cardiospondylocarpofacial Syndrome

Description

Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.

Clinical Features

Top most frequent phenotypes and symptoms related to Cardiospondylocarpofacial Syndrome

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Abnormal facial shape
  • Feeding difficulties

And another 42 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

Cardiospondylocarpofacial Syndrome Is also known as forney-robinson-pascoe syndrome, mitral regurgitation-deafness-skeletal anomalies syndrome, forney syndrome, mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones.

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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Cardiospondylocarpofacial Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BDNF, RPS6KA3, SCN2A, SCN8A, SLC16A2, SLC2A1, SLC6A8, SLC9A6, SMC1A, KDM5C, STXBP1, TBR1, TCF4, TSPAN7, TRIO, UBA7, UBE2A, ZNF711, BCL11A, FTSJ1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Frontometaphyseal dysplasia Comprehensive panel.

By Connective Tissue Gene Tests (United States).

TAB2, FLNA, MAP3K7
Specificity
34 %
Genes
100 %
Frontometaphyseal dysplasia NGS panel.

By Connective Tissue Gene Tests (United States).

TAB2, FLNA, MAP3K7
Specificity
34 %
Genes
100 %
Frontometaphyseal dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

TAB2, FLNA, MAP3K7
Specificity
34 %
Genes
100 %
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
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 %

We have -1 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like POROKERATOSIS 2, PALMAR, PLANTAR, AND DISSEMINATED TYPE; POROK2 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1 MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15 EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

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