Meacham Syndrome

Description

Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.

Clinical Features

Top most frequent phenotypes and symptoms related to Meacham Syndrome

  • Neoplasm
  • Cryptorchidism
  • Ventricular septal defect
  • Atrial septal defect
  • Hernia
  • Patent ductus arteriosus
  • Abnormal heart morphology
  • Tetralogy of Fallot
  • Ambiguous genitalia
  • Hypoplasia of penis

And another 24 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

Meacham Syndrome Is also known as rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome, meacham-winn-culler syndrome.

Researches and researchers

Doctors, researchs, and experts related to Meacham Syndrome extracted from public data.

Meacham Syndrome Experts map



Current Researchs and researchers

  • HAMBURG — Dr Anja LEHNHARDT

    Investigator of research project - Manager of registry

    • Institution/s:
      — UKE - Universitätsklinikum Hamburg-Eppendorf
    • Research area/topic::

      Genotype-phenotype correlation of patients with WT1 gene mutation



Mendelian

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Meacham 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
100 %
Hereditary Renal Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

SDHA, SDHB, SDHC, SDHD, VHL, WT1, CDKN1C, SDHAF2, FLCN, FH, GPC3, MET, PTEN
Specificity
8 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Early Onset Nephrotic Syndrome Evaluation.

By Athena Diagnostics Inc (United States).

WT1, NPHS2, PLCE1, LAMB2, NPHS1
Specificity
20 %
Genes
100 %
WT1 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

WT1
Specificity
100 %
Genes
100 %
WT1-Related Disorders - Sequencing.

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

WT1
Specificity
100 %
Genes
100 %
WT1-Related Disorders - Del/Dup Analysis.

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

WT1
Specificity
100 %
Genes
100 %
MyeloidDx by NGS.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).

RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %

We have 163 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPONDYLOEPIPHYSEAL DYSPLASIA TARDA RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1 PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15

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