Matthew-wood Syndrome

Description

Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.

Clinical Features

Top most frequent phenotypes and symptoms related to Matthew-wood Syndrome

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape
  • Muscular hypotonia
  • Cryptorchidism

And another 65 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

Matthew-wood Syndrome Is also known as anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm, syndromic microphthalmia type 9, mcops9, pulmonary agenesis, microphthalmia, and diaphragmatic defect, anophthalmia-pulmonary hypoplasia syndrom.

Researches and researchers

Doctors, researchs, and experts related to Matthew-wood Syndrome extracted from public data.

Matthew-wood Syndrome Experts map



Current Researchs and researchers

  • EDINBURGH — Pr Robert HILL

    Investigator of research project

    • Institution/s:
      — Western General Hospital
    • Research area/topic::

      Genetic basis of limb and gut development and dysmorphogenesis


Matthew-wood Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
50 %
Anophthalmia/microphthalmia.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).

BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3 , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
100 %
STRA6. Complete sequencing.

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

STRA6
Specificity
100 %
Genes
50 %
Microphthalmia syndromic 9 (sequence analysis of STRA6 gene).

By CGC Genetics (Portugal).

STRA6
Specificity
100 %
Genes
50 %
Microphthalmia (NGS panel for 26 genes).

By CGC Genetics (Portugal).

BMP4, SHH, SIX6, SOX2, VAX1, MFRP, RAX, NAA10, VSX2, SMOC1, CHD7, BCOR, FREM1, TENM3, STRA6, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6 , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
100 %
Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BMP4, BMP7, SIX6, SOX2, RAX, VSX2, SMOC1, BCOR, CRYBA4, TENM3, STRA6, FOXE3, ALDH1A3, GDF6, HCCS, MITF, OTX2
Specificity
6 %
Genes
50 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...)

View the complete list with 386 more genes
Specificity
1 %
Genes
50 %

You can get up to 25 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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