Otodental Syndrome

Description

Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.

Clinical Features

Top most frequent phenotypes and symptoms related to Otodental Syndrome

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract
  • Anteverted nares
  • Abnormality of the dentition
  • Long philtrum
  • Microphthalmia
  • Coloboma
  • Carious teeth

And another 30 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Otodental Syndrome Is also known as globodontia, otodental dysplasia, chromosome 11q13 deletion syndrome, otodental 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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Otodental Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
Genes
100 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States).

ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN , (...)

View the complete list with 130 more genes
Specificity
1 %
Genes
100 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %
Audiome (hearing loss panel).

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

BCS1L, SIX1, SNAI2, SMPX, SOX10, SUCLA2, TECTA, TIMM8A, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CLIC5, CDH23, CABP2, PCDH15, OSBPL2 , (...)

View the complete list with 85 more genes
Specificity
1 %
Genes
100 %
Syndromic deafness (NGS panel for 62 genes).

By CGC Genetics (Portugal).

SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SOX10, TCOF1, TFAP2A, TIMM8A, TYR, USH1C, USH2A, CLRN1, WFS1, CDH23, CACNA1D, PCDH15, ANKH, ABHD12, CD151 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Syndromic and non syndromic deafness (NGS panel for 127 genes).

By CGC Genetics (Portugal).

SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SNAI2, SMPX, SOX10, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, TYR, USH1C, USH2A, CLRN1, TSPEAR, WFS1 , (...)

View the complete list with 105 more genes
Specificity
1 %
Genes
100 %
Nonsyndromic Hearing Loss and Deafness Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SMPX, TECTA, TJP2, TMPRSS3, OTOA, TMC1, TRIOBP, CCDC50, GIPC3, SLC17A8, CLDN14, LHFPL5, DIABLO, COCH, MYH14, CRYM, CIB2, LRTOMT, MARVELD2, LOXHD1 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia via FGF3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

FGF3
Specificity
100 %
Genes
100 %

We have 20 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TN POLYAGGLUTINATION SYNDROME; TNPS SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2 FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3 AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; AUNA1 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more