Overview
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome (also known as FILS syndrome) is an extremely rare genetic condition that affects multiple body systems. It was first described in a small number of patients and is caused by mutations in the NSMCE3 gene, which plays a role in DNA repair. The syndrome gets its name from its four main features: unusual facial features (facial dysmorphism), a weakened immune system (immunodeficiency), a net-like purplish skin pattern called livedo reticularis, and shorter-than-expected height (short stature). Children with this condition are often born small and continue to grow slowly throughout childhood. The immune system problems can lead to frequent and sometimes severe infections, particularly of the lungs and airways. The distinctive skin pattern, livedo reticularis, appears as a lace-like or mottled discoloration on the skin and is usually present from early life. Facial features may include a broad nose, widely spaced eyes, and other subtle differences. Because this syndrome is so rare, treatment is mainly supportive and focused on managing individual symptoms. This may include immunoglobulin replacement therapy or antibiotics to help fight infections, growth hormone evaluation for short stature, and regular monitoring by multiple specialists. There is currently no cure, and management requires a coordinated team approach.
Also known as:
Key symptoms:
Short stature or poor growth from birthUnusual facial features such as a broad nose and widely spaced eyesNet-like purplish or bluish skin pattern (livedo reticularis)Weakened immune system leading to frequent infectionsRecurrent lung and airway infectionsLow levels of infection-fighting antibodies (immunoglobulin deficiency)Low birth weight or being small for gestational ageReduced number of certain white blood cells (lymphopenia)Developmental delays in some casesSkin that appears mottled or blotchy
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Facial dysmorphism-immunodeficiency-livedo-short stature syndrome.
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Specialists
View all specialists →No specialists are currently listed for Facial dysmorphism-immunodeficiency-livedo-short stature syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Facial dysmorphism-immunodeficiency-livedo-short stature syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's immune deficiency, and what infections should we watch for?,Would immunoglobulin replacement therapy be helpful, and how is it given?,Are there any vaccines my child should avoid because of their immune problems?,Should we consider growth hormone therapy for short stature?,What specialists should be part of my child's care team?,Are there any clinical trials or research studies we could participate in?,What should we do if my child develops a fever or signs of infection?
Common questions about Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
What is Facial dysmorphism-immunodeficiency-livedo-short stature syndrome?
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome (also known as FILS syndrome) is an extremely rare genetic condition that affects multiple body systems. It was first described in a small number of patients and is caused by mutations in the NSMCE3 gene, which plays a role in DNA repair. The syndrome gets its name from its four main features: unusual facial features (facial dysmorphism), a weakened immune system (immunodeficiency), a net-like purplish skin pattern called livedo reticularis, and shorter-than-expected height (short stature). Children with this condition are ofte
How is Facial dysmorphism-immunodeficiency-livedo-short stature syndrome inherited?
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Facial dysmorphism-immunodeficiency-livedo-short stature syndrome typically begin?
Typical onset of Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is neonatal. Age of onset can vary across affected individuals.