Facial dysmorphism - immunodeficiency - livedo - short stature

General Information (adopted from Orphanet):

Synonyms, Signs: FILS
FILS syndrome
Number of Symptoms 20
OrphanetNr: 352712
OMIM Id: 615139
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic malformation syndrome with short stature
 -Rare genetic disease
Malformation syndrome with short stature
 -Rare developmental defect during embryogenesis
Malformation syndrome with skin/mucosae involvement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Other immunodeficiency syndrome due to defects in adaptive immunity
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0000272) Malar flattening 277 / 7739
2
 (HPO:0004482) Relative macrocephaly 44 / 7739
3
 (HPO:0000337) Broad forehead 116 / 7739
4
 (HPO:0002653) Bone pain rare [HPO:skoehler] 75 / 7739
5
 (HPO:0002652) Skeletal dysplasia 113 / 7739
6
 (HPO:0003868) Humeral cortical thickening 2 / 7739
7
 (HPO:0004322) Short stature 1232 / 7739
8
 (HPO:0007421) Telangiectases of the cheeks 2 / 7739
9
 (HPO:0000965) Cutis marmorata 46 / 7739
10
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
11
 (HPO:0002721) Immunodeficiency 97 / 7739
12
 (OMIM) Lacunar bone lesions (in some patients) 1 / 7739
13
 (OMIM) Low naive T cells 1 / 7739
14
 (OMIM) Decreased IgM and IgG2 1 / 7739
15
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
16
 (OMIM) Low memory B cells 1 / 7739
17
 (OMIM) Lack of acquired antibodies 1 / 7739
18
 (HPO:0003577) Congenital onset 133 / 7739
19
 (OMIM) Decreased T cell proliferation 1 / 7739
20
 (OMIM) Modeling defects at the long bone diaphyses (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) FILS syndrome is characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, immunodeficiency resulting in recurrent infections, and short stature (summary by Pachlopnik Schmid et al., 2012).
Clinical Description OMIM Pachlopnik Schmid et al. (2012) reported a large multigenerational consanguineous French kindred in which 11 individuals showed a constellation of features, including mild facial dysmorphism, immunodeficiency, livedo, and short stature. Three additional family members displayed 2 or 3 ...
Molecular genetics OMIM By homozygosity mapping followed by candidate gene sequencing of a consanguineous French family with FILS, Pachlopnik Schmid et al. (2012) identified a homozygous splice site mutation in the POLE gene (174762.0002). PCR analysis of patient T cells showed ...