Treacher Collins Syndrome 3; Tcs3

Description

Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss (Dauwerse et al., 2011).For additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Treacher Collins Syndrome 3; Tcs3

  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Downslanted palpebral fissures
  • Malar flattening
  • Conductive hearing impairment
  • Coloboma
  • Microtia
  • Atresia of the external auditory canal
  • Bilateral conductive hearing impairment

And another 2 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

Treacher Collins Syndrome 3; Tcs3 Is also known as mandibulofacial dysostosis, treacher collins type, autosomal recessive.

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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Treacher Collins Syndrome 3; Tcs3 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 %
Treacher Collins Syndrome NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

TCOF1, POLR1C, POLR1D
Specificity
34 %
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 %
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 %
Facial Dysostosis Sequencing Panel.

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

SF3B4, TCOF1, ALX1, EVC2, POLR1C, POLR1D, CHD7, DHODH, ZSWIM6, EFTUD2, EFNB1, EVC, ALX3, ALX4, MYCN, PDE4D, PRKAR1A
Specificity
6 %
Genes
100 %
POLR1C.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children (United States).

POLR1C
Specificity
100 %
Genes
100 %
POLR1C. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

POLR1C
Specificity
100 %
Genes
100 %
TCOF1, POLR1C, POLR1D. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

TCOF1, POLR1C, POLR1D
Specificity
34 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

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