Microcephaly-capillary Malformation Syndrome

Description

Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.

Clinical Features

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

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Failure to thrive
  • Micrognathia

And another 50 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.)
— The onset for some of the known clinical features related to this disease may vary, including infantile onset .

Alternative names

Microcephaly-capillary Malformation Syndrome Is also known as mic-cap syndrome, microcephaly-cutaneous capillary malformation syndrome, mic-cm syndrome.

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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Microcephaly-capillary Malformation Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Vascular Disorders Panel.

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

SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Autosomal Recessive Primary Microcephaly Tier 2 panel.

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

STIL, SLC25A19, ZNF335, ARFGEF2, STAMBP, CENPJ, NDE1, CDK6, CENPE, CENPF, CDK5RAP2, CIT, MED17, KNL1, WDR62, SASS6, CEP63, MFSD2A, CEP135, CEP152 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
STAMBP deletion/duplication analysis.

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

STAMBP
Specificity
100 %
Genes
100 %
STAMBP sequencing.

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

STAMBP
Specificity
100 %
Genes
100 %
Microcephaly Sequencing Panel.

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

STIL, SLC2A1, SLC9A6, PLK4, CDKL5, TCF4, UBE3A, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, CASK, TSEN34, ZNF335, ARFGEF2, PCNT, TBC1D20, TUBGCP4, STAMBP , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Microcephaly Deletion/Duplication Panel.

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

STIL, SLC1A4, SLC2A1, SLC9A6, SOX11, PLK4, CDKL5, TCF4, UBE3A, USP18, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, NIN, PPP1R15B, CASK, TSEN34, ZNF335 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
STAMBP. Complete sequencing.

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

STAMBP
Specificity
100 %
Genes
100 %
Microcephaly-capillary malformation syndrome (sequence analysis of STAMBP gene).

By CGC Genetics (Portugal).

STAMBP
Specificity
100 %
Genes
100 %

We have 16 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; PASNA CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE; SEMDSTWK MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH

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