ORPHA:352712
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Also known as: FILS syndrome
Publications
47
50.5th percentile
Trials
44
Interventional, condition-specific
Researchers
414
Distinct authors in sample
Gene link
POLE
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
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.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014058
- OMIM:615139
- UMLS:C3554576
Additional Mondo synonyms (1)
fils syndrome
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — POLE
- LiteraturePresent
47 matched papers (42 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
44 matched on ClinicalTrials.gov (7 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (POLE).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
47
47 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
47 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
42 in the last 10 years · high confidence · 50.5th percentile (publications denominator)
Phrase hits: 47 · MeSH hits: 0
Who's working on it?
414
Distinct author names in 47 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Picard C5 papers · 2025
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.
Papers in Europe PMC - 02Cunningham-Rundles C4 papers · 2025
Department of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.
Papers in Europe PMC - 03Klein C4 papers · 2025
Dr von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.
Papers in Europe PMC - 04Morio T4 papers · 2025
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Papers in Europe PMC - 05Sullivan KE4 papers · 2025
Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Papers in Europe PMC - 06Al-Herz W3 papers · 2020
Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
Papers in Europe PMC - 07Bousfiha A3 papers · 2020
Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca, Morocco.
Papers in Europe PMC - 08Casanova JL3 papers · 2020
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.
Papers in Europe PMC - 09Chatila T3 papers · 2020
Division of Immunology, Children's Hospital Boston, Boston, MA, USA.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
44
interventional trials for this specific condition
44 interventional trials matched this specific condition name; 7 currently recruiting in our sample.
Data as of 27 July 2026
44 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.7th percentile).
high confidence · 96.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
44 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06898216·RECRUITING·Steerable vs Conventional FANS for <2cm Lower Pole Stone Treatment: SCULPT Trial
Conditions: Kidney Stones·Matched via recall expansion
- NCT05640999·RECRUITING·Adjuvant Therapy in POLE-Mutated and p53-Wildtype/NSMP Early Stage Endometrial Cancer RAINBO BLUE & TAPER
Conditions: Endometrial Cancer·Matched via recall expansion
- NCT07705698·RECRUITING·Nordic vs Blood Flow Restriction Nordic Exercise in Elite Female Pole Vaulters
Conditions: Muscle Strength · Athletic Performance · Hamstring Adaptation · Sports Injury Prevention·Matched via recall expansion
- NCT05420064·RECRUITING·An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results
Conditions: BRCA1 Mutation · POLD1 Gene Mutation · CDKN2A Mutation · BRCA2 Mutation·Matched via recall expansion
- NCT07018531·NOT YET RECRUITING·Vertical Soft Tissue Augmentation With Tent Pole Technique and Its Influence on Marginal Bone Loss Around Dental Implants
Conditions: Soft Tissue Augmentation Around Dental Implants·Matched via recall expansion
- NCT06118658·NOT YET RECRUITING·Chemotherapy Sequential Tislelizumab After Radical Resection in Patients With dMMR/MSI-H or POLE/POLD1 Mutations
Conditions: Gastric · Colorectal Adenocarcinoma·Matched via recall expansion
- NCT03810339·RECRUITING·Toripalimab（JS001） as Monotherapy in Participants With POLE or POLD-1 Mutated and Non-MSI-H Advanced Solid Tumors
Conditions: Solid Tumor · Advanced Cancer·Matched via recall expansion
Observational and natural-history studies
14 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT07657962·NOT YET RECRUITING·Autologous Free Dermal Graft Support in Superior Pedicle Vertical Scar Reduction Mammaplasty
Conditions: Breast Ptosis · Mammaplasty · Lower Pole Elongation · Postoperative Breast Pseudoptosis·Matched via recall expansion
- NCT07642323·NOT YET RECRUITING·Safety and Efficacy of NOM and OPFS Versus RO for dMMR/MSI-H or POLE-Mutated Gastrointestinal Cancers
Conditions: Gastrointestinal Cancers · Gastrointestinal Cancers - Stomach · Gastrointestinal Cancers - Colorectal · Gastrointestinal Cancers - Anus·Matched via recall expansion
- NCT07114653·RECRUITING·The Role of POLE Mutation in High Risk Endometrial Cancer.
Conditions: Endometrial Neoplasms·Matched via recall expansion
- NCT05103969·RECRUITING·Cohort of Tumors With POLE/D1 Mutation
Conditions: Tumors · POLE Exonuclease Domain Mutation · POLD1 Gene Mutation·Matched via recall expansion
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Facial dysmorphism-immunodeficiency-livedo-short stature syndrome" OR "FILS syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Facial dysmorphism-immunodeficiency-livedo-short stature syndrome" OR "FILS syndrome" OR "POLE"
Recall-expansion terms: POLE
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 44 interventional · 14 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T14:19:06.679Z