Microcephaly-capillary Malformation Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Microcephaly-capillary Malformation Syndrome

STAMBP

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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.

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 Panel complete gene list SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14, RASA1 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 Panel complete gene list STIL, SLC25A19, ZNF335, ARFGEF2, STAMBP, CENPJ, NDE1, CDK6, CENPE, CENPF, CDK5RAP2, CIT, MED17, KNL1, WDR62, SASS6, CEP63, MFSD2A, CEP135, CEP152, PHC1, AGMO, MCPH1, PNKP 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 Panel complete gene list STIL, SLC2A1, SLC9A6, PLK4, CDKL5, TCF4, UBE3A, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, CASK, TSEN34, ZNF335, ARFGEF2, PCNT, TBC1D20, TUBGCP4, STAMBP, RAB3GAP1, ORC6, RAB3GAP2, CENPJ, CDC6, NDE1, CDK6, SPATA5, TUBGCP6, IER3IP1, CENPE, CENPF, CDK5RAP2, ASPM, KIF1BP, MED17, KNL1, WDR62, CDT1, CTNNB1, SASS6, NHEJ1, CEP63, MFSD2A, TSEN54, TRMT10A, TSEN2, CEP135, CEP152, ASXL3, PYCR2, TRAPPC9, EFTUD2, DYRK1A, PHC1, FOXG1, KATNB1, KIF11, LIG4, MCPH1, MECP2, NBN, ORC1, ORC4, ATR, ATRX, PNKP, PQBP1, QARS, RBBP8 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 Panel complete gene list STIL, SLC1A4, SLC2A1, SLC9A6, SOX11, PLK4, CDKL5, TCF4, UBE3A, USP18, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, NIN, PPP1R15B, CASK, TSEN34, ZNF335, ARFGEF2, PCNT, TBC1D20, TUBGCP4, STAMBP, RAB3GAP1, ORC6, RAB3GAP2, CENPJ, CDC6, NDE1, CDK6, SPATA5, TUBGCP6, IER3IP1, CENPE, CENPF, CDK5RAP2, ASPM, CIT, KIF1BP, MED17, KNL1, WDR62, CDT1, CTNNB1, SASS6, NHEJ1, CEP63, MFSD2A, TSEN54, TRMT10A, TSEN2, DIAPH1, CEP135, CEP152, ASXL3, PYCR2, TRAPPC9, EFTUD2, DYRK1A, PHC1, EIF2S3, AGMO, FOXG1, KATNB1, KIF11, LIG4, MCPH1, MECP2, NBN, ORC1, ORC4, ATR, ATRX, PNKP, PQBP1, QARS, RBBP8 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 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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