Congenital Cataracts-facial Dysmorphism-neuropathy Syndrome

Description

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Cataracts-facial Dysmorphism-neuropathy Syndrome

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Micrognathia
  • Strabismus
  • Muscle weakness

And another 65 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

Congenital Cataracts-facial Dysmorphism-neuropathy Syndrome Is also known as ccfdn, cataract, congenital, with facial dysmorphism and neuropathy.

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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Congenital Cataracts-facial Dysmorphism-neuropathy Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

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

RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

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

RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
Charcot-Marie-Tooth.

By Human Genetics University Hospital Bern (Switzerland).

YARS, PRX, BSCL2, GDAP1, LITAF, FIG4, FGD4, SBF2, CTDP1, SH3TC2, DNM2, EGR2, GARS, GJB1, MPZ, SEPT9, MTMR2, NDRG1, NEFL, PDK3 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Cataracts with facial dysmorphism and neuropathy (sequence analysis CTDP1 gene).

By CGC Genetics (Portugal).

CTDP1
Specificity
100 %
Genes
100 %
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes).

By CGC Genetics (Portugal).

SBF1, SCN11A, SCN9A, DST, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TWNK, TFG, TTR, YARS, PRX, ARHGEF10, WNK1, BSCL2, ABHD12, GDAP1, TRIM2 , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %
Cataracts (NGS panel for 41 genes).

By CGC Genetics (Portugal).

BFSP1, BFSP2, VIM, WFS1, FYCO1, PXDN, CHMP4B, P3H2, AGK, SLC16A12, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) Syndrome via CTDP1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CTDP1
Specificity
100 %
Genes
100 %

We have 29 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Search Engine

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