Isolated Pierre Robin Syndrome

Description

Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.

Clinical Features

Phenotypes and symptoms related to Isolated Pierre Robin Syndrome

  • Micrognathia
  • Cleft palate
  • Neonatal respiratory distress
  • Glossoptosis
  • Upper airway obstruction
  • Abnormality of the pharynx

Incidence and onset information

— Based on the latest data available Isolated Pierre Robin Syndrome have a estimated birth prevalence of 5 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Isolated Pierre Robin Syndrome Is also known as isolated pierre robin sequence.

Researches and researchers

Doctors, researchs, and experts related to Isolated Pierre Robin Syndrome extracted from public data.

Isolated Pierre Robin Syndrome Experts map



Current Researchs and researchers

  • MAGDEBURG — Dr Anke RISSMANN

    Investigator of research project - Manager of registry - Coordinator of research network

    • Institution/s:
      — Universit√§tsklinikum Magdeburg A.√∂.R
    • Research area/topic::

      International Clearinghouse for Birth Defects Monitoring Systems


  • NEWTOWNABBEY — Pr Helen DOLK

    Investigator of research project - Coordinator of research network - Coordinator of patient registry network

    • Institution/s:
      — Room 12L09, University of Ulster
      — University of Ulster
    • Research area/topic::

      Epidemiological studies on congenital anomaly prevalence, risk factors, prevention and prenatal screening



Mendelian

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Isolated Pierre Robin Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Skeletal Dysplasia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SLC26A2, SOX9, TRPV4, COL1A2, COMP, FGFR3, FLNA, HSPG2
Specificity
13 %
Genes
100 %
Campomelic Dysplasia with Autosomal Sex Reversal - SOX9 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

SOX9
Specificity
100 %
Genes
100 %
Campomelic Dysplasia.

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

SOX9
Specificity
100 %
Genes
100 %
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 %
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel.

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

SOX9, SRD5A2, SRY, WT1, ZFPM2, ARX, B3GLCT, MAMLD1, CYB5A, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, AKR1C2, GATA4, AMH, AMHR2, HCCS, HSD17B3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel.

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

SOX9, SRD5A2, SRY, WT1, ZFPM2, ARX, B3GLCT, MAMLD1, CYB5A, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, AKR1C2, GATA4, AMH, AMHR2, HCCS, HSD17B3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
SOX9.

By Institute for Human Genetics University Clinic Freiburg (Germany).

SOX9
Specificity
100 %
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 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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