Treacher-collins Syndrome

Description

Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.

Clinical Features

Top most frequent phenotypes and symptoms related to Treacher-collins Syndrome

  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Micrognathia
  • Strabismus
  • Abnormal facial shape
  • Cleft palate
  • Cataract
  • Cryptorchidism
  • High palate

And another 51 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available TREACHER-COLLINS SYNDROME have a estimated birth prevalence of 2 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Treacher-collins Syndrome Is also known as franceschetti-klein syndrome, mandibulofacial dysostosis without limb anomalies.

Researches and researchers

Doctors, researchs, and experts related to Treacher-collins Syndrome extracted from public data.

Treacher-collins Syndrome Experts map



Current Researchs and researchers

  • BORDEAUX — Dr Caroline ROORYCK-THAMBO

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Université de Bordeaux, CHU de Bordeaux-GH Pellegrin
      — Plateau Technique de Biologie Moléculaire (PTBM) - Tripode 1er étage, CHU de Bordeaux-GH Pellegrin
    • Research area/topic::

      GOLDGEN: Identification and investigation of a gene involved in monogenic forms of Goldenhar syndrome


  • PARIS — Pr Nicolas LEULLIOT

    Investigator of research project

    • Institution/s:
      — CNRS UMR 8015, Faculté de médecine Paris-Descartes, Site Necker
    • Research area/topic::

      RNPgenesis: Structure and function of ribonucleoprotein complexes assembly factors involved in human pathologies


  • GÖTTINGEN — Pr Bernd WOLLNIK

    Coordinator of expert centre - Clinical expert - Genetic counsellor - Responsible for diagnostic tests - Investigator of research project - Coordinator of research network - Director of department

    • Institution/s:
      — Institut für Humangenetik der Universität Göttingen
      — Universitätsmedizin Göttingen
    • Research area/topic::

      CRANIRARE: An integrated clinical and scientific approach for craniofacial malformations



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Treacher-collins 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
2 %
Genes
100 %
Treacher Collins Syndrome NGS Panel.

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

TCOF1, POLR1C, POLR1D
Specificity
100 %
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
2 %
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
34 %
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
18 %
Genes
100 %
POLR1C.

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

POLR1C
Specificity
100 %
Genes
34 %
POLR1C. Complete sequencing.

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

POLR1C
Specificity
100 %
Genes
34 %
TCOF1, POLR1C, POLR1D. NextGeneDx.Complete sequencing by NGS.

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

TCOF1, POLR1C, POLR1D
Specificity
100 %
Genes
100 %

We have 77 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

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 SHASHI-PENA SYNDROME; SHAPNS

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more