facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Findings
No curated finding names facial dysmorphism-immunodeficiency-livedo-short stature syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0014058), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating IgM concentrationHPOHP:0002850
- 14 of 14 reported patients
- Short statureHPOHP:0004322
- 12 of 13 reported patients
- ImmunodeficiencyHPOHP:0002721
- 12 of 14 reported patients
- Broad foreheadHPOHP:0000337
- 11 of 14 reported patients
- Malar flatteningHPOHP:0000272
- 11 of 14 reported patients
- Recurrent lower respiratory tract infectionsHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- POLEHGNC:9177
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: facial dysmorphism-immunodeficiency-livedo-short stature syndrome
- Also called
- fils syndrome