Facial Dysmorphism-immunodeficiency-livedo-short Stature Syndrome

Table of contents:

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

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.

Genes related to Facial Dysmorphism-immunodeficiency-livedo-short Stature Syndrome

POLE

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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

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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.

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 Panel complete gene list BLM, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, CDKN2A, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, ATM, AXIN2, PMS2, POLD1, POLE, PTEN 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 Panel complete gene list BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, CDK4, CDKN2A, GREM1, BRIP1, PALB2, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, NBN, ATM, PMS2, POLD1, POLE, BARD1, PTEN, RAD51C, RAD51D 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 Panel complete gene list RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SRP72, STK11, EPCAM, TERC, TERT, TP53, VHL, IKZF1, SAMD9, SAMD9L, CBL, RTEL1, CDH1, CDK4, CDKN2A, CEBPA, DDX41, BRIP1, SDHAF2, TMEM127, PALB2, ANKRD26, ETV6, FH, GATA2, APC, SMAD4, MAX, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, ATM, PAX5, PMS2, POLD1, POLE, BAP1, PTEN, PTPN11, RET 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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