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facial dysmorphism-immunodeficiency-livedo-short stature syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

facial dysmorphism-immunodeficiency-livedo-short stature syndrome

MONDO:0014058

Also known as:fils syndromefacial dysmorphism, immunodeficiency, livedo, and short staturefils

Overview

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 analyzes 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.

GeneticsAutosomal recessive · POLE (chr 12)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Decreased circulating total IgM; and very common findings: Short stature and Immunodeficiency. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	3	Recurrent lower respiratory tract infections, Bronchiectasis, Recurrent upper respiratory tract infections

Genetic Landscape

POLE function has not been fully characterized.

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is associated with mutations in the POLE gene on chromosome 12.

Diagnosis

Genetic testing for POLE is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for facial dysmorphism-immunodeficiency-livedo-short stature syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 very common features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for facial dysmorphism-immunodeficiency-livedo-short stature syndrome.

202 publications have been identified in PubMed for facial dysmorphism-immunodeficiency-livedo-short stature syndrome. Kisho has analyzed 37 by research type. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (19%), and Epidemiology / Natural History (16%).

Research Type	Count	% of Total
Patient case studies	16

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615139

Orphanet

European rare disease database

Orphanet:352712

GARD

Genetic and Rare Diseases Info Center

GARD:17528

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

facial dysmorphism-immunodeficiency-livedo-short stature syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

facial dysmorphism-immunodeficiency-livedo-short stature syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications