Orofaciodigital Syndrome Type 2

Description

Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.

Clinical Features

Top most frequent phenotypes and symptoms related to Orofaciodigital Syndrome Type 2

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • High palate
  • Depressed nasal bridge
  • Brachydactyly

And another 53 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 2 Is also known as oral-facial-digital syndrome, type ii, ofd2, orofaciodigital syndrome ii, oral-facial-digital syndrome type 2, ofds ii, mohr 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 2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Abnormal/Ambiguous Genitalia Sequencing Panel.

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

ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Short-rib thoracic dysplasia 6 with or without polydactyly (sequence analysis of NEK1 gene).

By CGC Genetics (Portugal).

NEK1
Specificity
100 %
Genes
100 %
Ellis Van Creveld syndrome (NGS panel for 12 genes).

By CGC Genetics (Portugal).

WDR19, EVC2, WDR60, TTC21B, WDR34, IFT140, WDR35, IFT80, DYNC2H1, IFT172, EVC, NEK1
Specificity
9 %
Genes
100 %
Short-rib thoracic dysplasia, with or without polydactyly (NGS panel for 16 genes).

By CGC Genetics (Portugal).

IFT122, WDR19, EVC2, WDR60, TTC21B, CSPP1, CEP120, WDR34, IFT140, WDR35, IFT80, DYNC2H1, IFT43, IFT172, EVC, NEK1
Specificity
7 %
Genes
100 %
Short Rib Skeletal Dysplasia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC26A2, SOX9, IFT122, WDR19, EVC2, WDR60, TCTN3, TTC21B, WDR34, IFT140, WDR35, IFT80, DYNC2H1, IFT172, EVC, FGFR2, FGFR3, NEK1, PAPSS2
Specificity
6 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %

You can get up to 42 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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