Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Synonyms: FILS syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | FILS syndrome |
| fr | Syndrome de dysmorphie faciale-déficit immunitaire-livedo-petite taille | Syndrome FILS · Syndrome de dysmorphie faciale-immunodéficience-livedo-petite taille |
| de | Gesichtsdysmorphie-Immundefekt-Livedo-Kleinwuchs-Syndrom | FILS-Syndrom |
| es | Síndrome de dismorfia facial-inmunodeficiencia-livedo-talla baja | |
| it | Sindrome da dismorfismi facciali, immunodeficienza, livedo, bassa statura | Sindrome FILS |
| nl | Faciale dysmorfie - immuundeficiëntie - livedo - kleine gestalte-syndroom | FILS-syndroom |
| pt | Síndrome de dismorfia facial-imunodeficiência-livedo-baixa estatura | |
| pl | Dysmorfia twarzy - Niedobór odporności - siność - niski wzrost | Zespół FILS |
| cs | Syndrom zahrnující faciální dysmorfismus, imunodeficienci, livedo a nízký vzrůst | FILS syndrom |
| uk | Синдром дисморфізму обличчя-імунодефіциту-livedo-низькорослості | Синдром FILS |
| zh | 面部畸形-免疫缺陷-青斑-身材矮小综合征 | FLIS综合征 |
| tr | Yüz dismorfizmi-immün yetmezlik-livingo-kısa boy sendromu | FILS sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615139 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0014058 | E | validated | |
| UMLS | C4749948 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POLE | Disease-causing germline mutation(s) in | Assessed | HGNC:9177 | ENSG00000177084 | 174762 | 12q24.33 | DNA polymerase epsilon, catalytic subunit | 23230001[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 23230001[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352712
- This record as JSON: /data/d/352712.json