Megalencephaly-capillary Malformation-polymicrogyria Syndrome

Description

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

Clinical Features

Top most frequent phenotypes and symptoms related to Megalencephaly-capillary Malformation-polymicrogyria Syndrome

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia
  • Depressed nasal bridge
  • Optic atrophy
  • Macrocephaly
  • Frontal bossing
  • Ventriculomegaly

And another 25 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

Megalencephaly-capillary Malformation-polymicrogyria Syndrome Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome, macrocephaly-capillary malformation syndrome, mcmtc, mcap, megalencephaly-capillary malformation syndrome, macrocephaly-cutis marmorata telangiectatica congenita syndrome, mcm.

Researches and researchers

Doctors, researchs, and experts related to Megalencephaly-capillary Malformation-polymicrogyria Syndrome extracted from public data.

Megalencephaly-capillary Malformation-polymicrogyria Syndrome Experts map



Current Researchs and researchers

  • DIJON — Ms Virginie CARMIGNAC

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — CHU de Dijon - Plateau technique de Biologie
    • Research area/topic::

      Unraveling the genetic basis of mutation-negative mosaic overgrowth syndromes through deep whole exome sequencing


  • DIJON — Dr Jean-Baptiste RIVIERE

    Investigator of research project

    • Institution/s:
      — CHU de Dijon - Plateau technique de Biologie
      — Université de Bourgogne
    • Research area/topic::

      MOSAIC: A genomic approach to identify postzygotic mutations in mosaic developmental diseases involving the skin


  • MADRID — Dr Víctor MARTÍNEZ-GLEZ

    Clinical expert - Investigator of research project - Director of laboratory

    • Institution/s:
      — INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
      — INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
    • Research area/topic::

      PIK3CA Overgrowth Syndromes: Diagnosis, Phenotype and Clinical Guidelines



Mendelian

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Megalencephaly-capillary Malformation-polymicrogyria Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Brain Malformation Panel.

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

SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Macrocephaly.

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

MED12, NSD1, PHF6, UPF3B, CUL4B, EZH2, GLI3, NFIX, PIK3CA, PTCH1, PTEN
Specificity
10 %
Genes
100 %
PIK3CA sequence analysis (Somatic).

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States).

PIK3CA
Specificity
100 %
Genes
100 %
Somatic Overgrowth Gene Panel.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States).

AKT1, AKT2, AKT3, MTOR, GNA11, GNAQ, PIK3CA, PIK3R2
Specificity
13 %
Genes
100 %
PIK3CA Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

PIK3CA
Specificity
100 %
Genes
100 %
Hereditary Thyroid Cancer Panel.

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

SDHB, SDHD, TP53, WRN, DICER1, SRGAP1, AKT1, APC, PIK3CA, PRKAR1A, PTEN, RET
Specificity
9 %
Genes
100 %
PIK3CA.

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

PIK3CA
Specificity
100 %
Genes
100 %
Vascular Malformations NGS Multi-Gene Panel (21 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

BMPR2, SOX18, TEK, GLMN, CAV1, KRIT1, ACVRL1, DOCK6, ANTXR1, CCM2, ENG, GDF2, GNAQ, KCNK3, KDR, SMAD4, MAP3K3, PDCD10, PIK3CA, PTEN , (...)

View the complete list with 1 more genes
Specificity
5 %
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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