Facial Dysmorphism-immunodeficiency-livedo-short Stature Syndrome

Description

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.

Clinical Features

Top most frequent phenotypes and symptoms related to Facial Dysmorphism-immunodeficiency-livedo-short Stature Syndrome

  • Short stature
  • Abnormal facial shape
  • Pain
  • Macrocephaly
  • Malar flattening
  • Immunodeficiency
  • Recurrent infections
  • Recurrent respiratory infections
  • High forehead
  • Autoimmunity

And another 6 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

Facial Dysmorphism-immunodeficiency-livedo-short Stature Syndrome Is also known as fils 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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Facial Dysmorphism-immunodeficiency-livedo-short Stature Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
VistaSeq Colorectal Cancer Panel.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

BLM, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, CDKN2A, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, ATM, AXIN2, PMS2, POLD1, POLE , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
myRisk Hereditary Cancer.

By Myriad Genetic Laboratories, Inc. Myriad Genetic Laboratories, Inc. (United States).

BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, CDK4, CDKN2A, GREM1, BRIP1, PALB2, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, NBN, ATM , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Lynch Syndrome Panel.

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

EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE
Specificity
15 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

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

RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SRP72, STK11, EPCAM, TERC, TERT, TP53, VHL, IKZF1, SAMD9, SAMD9L, CBL , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
Hereditary Melanoma Sequencing Panel.

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

BRCA1, BRCA2, TP53, WRN, POT1, CDK4, CDKN2A, ACD, MC1R, POLE, BAP1
Specificity
10 %
Genes
100 %
Hereditary Colorectal Cancer High Risk Panel.

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

EPCAM, APC, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE
Specificity
12 %
Genes
100 %
Colorectal Polyposis Panel.

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

BMPR1A, STK11, BUB1B, GREM1, ENG, APC, SMAD4, MUTYH, AXIN2, POLD1, POLE, PTEN
Specificity
9 %
Genes
100 %
Comprehensive Hereditary Colorectal Cancer Panel.

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

BMPR1A, STK11, BUB1B, EPCAM, TP53, CDH1, GALNT12, GREM1, ENG, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, AXIN2, PMS2, POLD1, POLE, PTEN
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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