Autosomal Recessive Multiple Pterygium Syndrome

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Recessive Multiple Pterygium Syndrome

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Micrognathia
  • Strabismus
  • Cleft palate
  • Cryptorchidism

And another 55 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

Autosomal Recessive Multiple Pterygium Syndrome Is also known as autosomal recessive non-lethal multiple pterygium syndrome, escobar variant multiple pterygium syndrome, evmps, escobar syndrome.

Researches and researchers

Doctors, researchs, and experts related to Autosomal Recessive Multiple Pterygium Syndrome extracted from public data.

Autosomal Recessive Multiple Pterygium Syndrome Experts map



Current Researchs and researchers

  • BIRMINGHAM — Pr Eamonn R MAHER

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — University of Birmingham School of Medicine, Institute of Biomedical Research, University of Birmingham
      — Birmingham Women's NHS Foundation Trust
      — Addenbrooke's Hospital
    • Research area/topic::

      National Autozygosity Mapping Resource


  • BIRMINGHAM — Ms Shanaz PASHA

    Coordinator of research network

    • Institution/s:
      — Birmingham Women's NHS Foundation Trust
    • Research area/topic::

      National Autozygosity Mapping Resource


  • CAMBRIDGE — Pr Eamonn R MAHER

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — University of Birmingham School of Medicine, Institute of Biomedical Research, University of Birmingham
      — Birmingham Women's NHS Foundation Trust
      — Addenbrooke's Hospital
    • Research area/topic::

      National Autozygosity Mapping Resource


Autosomal Recessive Multiple Pterygium Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-immune Hydrops Panel.

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

RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
100 %
Neuromuscular Disorders Panel.

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

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Congenital Contractures Panel.

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

SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Comprehensive Neuromuscular Panel.

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

RYR1, RYR2, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, VCP, VRK1, ACTA1, CAPN3 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
CHRNG-Related Disorders.

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

CHRNG
Specificity
100 %
Genes
100 %
CHRNG. Complete sequencing.

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

CHRNG
Specificity
100 %
Genes
100 %
CHRNG. Complete Sequencing.

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

CHRNG
Specificity
100 %
Genes
100 %
Multiple pterygium syndrome (sequence analysis of CHRNG gene).

By CGC Genetics (Portugal).

CHRNG
Specificity
100 %
Genes
100 %

You can get up to 35 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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