Orofaciodigital Syndrome Type 14

Description

Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.

Clinical Features

Top most frequent phenotypes and symptoms related to Orofaciodigital Syndrome Type 14

  • Intellectual disability
  • Microcephaly
  • Abnormal facial shape
  • Cleft palate
  • Hypoplasia of the corpus callosum
  • Intellectual disability, severe
  • Absent speech
  • Upslanted palpebral fissure
  • Polydactyly
  • Micropenis

And another 12 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Orofaciodigital Syndrome Type 14 Is also known as oral-facial-digital syndrome type 14, ofd14, microcephaly-cerebral malformation-orofaciodigital syndrome.

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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Orofaciodigital Syndrome Type 14 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
C2CD3 Sequencing.

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

C2CD3
Specificity
100 %
Genes
100 %
Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CEP41, TMEM237, SUFU, ZNF423, KIF14, KIAA0586, ARMC9, INPP5E, AHI1, PIBF1, B9D1, TCTN3, C2CD3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Joubert syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

CEP41, TMEM237, SUFU, ZNF423, KIF14, KIAA0586, ARMC9, INPP5E, AHI1, PIBF1, B9D1, TCTN3, C2CD3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Joubert syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

CEP41, TMEM237, SUFU, ZNF423, KIF14, KIAA0586, ARMC9, INPP5E, AHI1, PIBF1, B9D1, TCTN3, C2CD3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Joubert syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

CEP41, TMEM237, SUFU, ZNF423, KIF14, KIAA0586, ARMC9, INPP5E, AHI1, PIBF1, B9D1, TCTN3, C2CD3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel.

By Connective Tissue Gene Tests (United States).

RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2 , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
Skeletal dysplasia and skeletal ciliopathy NGS panel.

By Connective Tissue Gene Tests (United States).

RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2 , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2 , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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