Overview
FILS syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased circulating total IgM
Always present (100%)HP:0002850
Decreased body height
Very frequent (80-99%)HP:0004322
Immune deficiency
Very frequent (80-99%)HP:0002721
Hypotrophic malar bone
Frequent (30-79%)HP:0000272
Increased width of the forehead
Frequent (30-79%)HP:0000337
Livedo
Frequent (30-79%)HP:0033832
Recurrent chest infections
Frequent (30-79%)HP:0002783
Recurrent URI
Frequent (30-79%)HP:0002788
Telangiectasia on the cheeks
Frequent (30-79%)HP:0007421
Bone pain
Occasional (5-29%)HP:0002653
Bronchiectasis
Occasional (5-29%)HP:0002110
Metaphyseal striations
Occasional (5-29%)HP:0031367
Relatively large head
HP:0004482
Related Conditions
Small stature(parent)
Cardiovascular system hereditary disorder(parent)
Hereditary disorder of the integument(parent)
Congenital immunodeficiency disease(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Cutis marmorata telangiectatica congenita(parent)
Hereditary disorder of immune system(parent)
Combined immunodeficiency disease(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 771515001
- UMLS CUI
- C3554576
- Fully Specified Name
- Facial dysmorphism, immunodeficiency, livedo, short stature syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 13
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.