Multiple Pterygium Syndrome, Escobar Variant; Evmps

Description

Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (OMIM ) and nonlethal (Escobar) types.

Clinical Features

Top most frequent phenotypes and symptoms related to Multiple Pterygium Syndrome, Escobar Variant; Evmps

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Ptosis
  • Low-set ears

And another 76 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

Multiple Pterygium Syndrome, Escobar Variant; Evmps Is also known as escobar syndrome, multiple pterygium syndrome, pterygium syndrome, multiple pterygium syndrome, nonlethal type, pterygium colli syndrome, pterygium universale.

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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Multiple Pterygium Syndrome, Escobar Variant; Evmps 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 %

We have 35 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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