Orofaciodigital Syndrome Type 14

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Orofaciodigital Syndrome Type 14

C2CD3

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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

— 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

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.

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 Panel complete gene list CEP41, TMEM237, SUFU, ZNF423, KIF14, KIAA0586, ARMC9, INPP5E, AHI1, PIBF1, B9D1, TCTN3, C2CD3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107, TMEM67, B9D2, CEP290, KIAA0556, RPGRIP1L, CC2D2A, IFT172, KIF7, TMEM231, MKS1, NPHP1, NPHP3, PDE6D 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 Panel complete gene list CEP41, TMEM237, SUFU, ZNF423, KIF14, KIAA0586, ARMC9, INPP5E, AHI1, PIBF1, B9D1, TCTN3, C2CD3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107, TMEM67, B9D2, CEP290, KIAA0556, RPGRIP1L, CC2D2A, KIF7, TMEM231, MKS1, NPHP1, NPHP3, PDE6D 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 Panel complete gene list CEP41, TMEM237, SUFU, ZNF423, KIF14, KIAA0586, ARMC9, INPP5E, AHI1, PIBF1, B9D1, TCTN3, C2CD3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107, TMEM67, B9D2, CEP290, KIAA0556, RPGRIP1L, CC2D2A, KIF7, TMEM231, MKS1, NPHP1, NPHP3, PDE6D 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 Panel complete gene list CEP41, TMEM237, SUFU, ZNF423, KIF14, KIAA0586, ARMC9, INPP5E, AHI1, PIBF1, B9D1, TCTN3, C2CD3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107, TMEM67, B9D2, CEP290, KIAA0556, RPGRIP1L, CC2D2A, KIF7, TMEM231, MKS1, NPHP1, NPHP3, PDE6D 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 Panel complete gene list RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2, COL1A2, C2CD3, DYNC2LI1, TTC21B, CEP120, DDR2, WDR34, TCTEX1D2, IFT140, KIAA0753, WDR35, IFT80, DYNC2H1, IFT43, IFT172, EBP, EVC, FGFR3, FLNB, ALPL, HSPG2, INPPL1, LBR, LIFR, MMP13, MMP9, ARSE, NEK1, PEX7, NKX3-2, PTH1R 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 Panel complete gene list RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2, COL1A2, C2CD3, DYNC2LI1, TTC21B, CEP120, DDR2, WDR34, TCTEX1D2, IFT140, KIAA0753, WDR35, IFT80, DYNC2H1, IFT43, IFT172, EBP, EVC, FGFR3, FLNB, ALPL, HSPG2, INPPL1, LBR, LIFR, MMP13, MMP9, ARSE, NEK1, PEX7, NKX3-2, PTH1R 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 Panel complete gene list RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2, COL1A2, C2CD3, DYNC2LI1, TTC21B, CEP120, DDR2, WDR34, TCTEX1D2, IFT140, KIAA0753, WDR35, IFT80, DYNC2H1, IFT43, IFT172, EBP, EVC, FGFR3, FLNB, ALPL, HSPG2, INPPL1, LBR, LIFR, MMP13, MMP9, ARSE, NEK1, PEX7, NKX3-2, PTH1R 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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