Overview
Combined immunodeficiency with facio-oculo-skeletal anomalies is an extremely rare genetic condition that affects multiple body systems at the same time. The name describes its three main areas of impact: the immune system (combined immunodeficiency), the face and eyes (facio-oculo), and the bones and skeleton (skeletal anomalies). Children born with this condition have a weakened immune system, which means their body has trouble fighting off infections. Both the T-cells and B-cells of the immune system may be affected, leaving the child vulnerable to frequent and severe infections. In addition to immune problems, affected individuals typically have distinctive facial features, eye abnormalities that can affect vision, and skeletal differences such as abnormal bone development or growth problems. Because this disease affects so many parts of the body, it usually becomes apparent early in life, often during infancy. Treatment is mainly supportive and focuses on managing infections, supporting the immune system, and addressing the specific bone and eye problems. In some cases, bone marrow or stem cell transplantation may be considered to correct the immune deficiency. Because this condition is so rare, management often requires a coordinated team of specialists. Research into the exact genetic causes and targeted treatments is still ongoing.
Also known as:
Key symptoms:
Frequent and severe infectionsUnusual facial featuresEye abnormalities or vision problemsBone or skeletal abnormalitiesShort stature or growth delayFailure to thrive in infancyRecurrent lung infections or pneumoniaChronic diarrheaSkin rashes or infectionsDelayed developmentJoint problems or stiffnessLow levels of immune cells in blood workFeeding difficulties in infancy
Clinical phenotype terms (50)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Combined immunodeficiency with facio-oculo-skeletal anomalies.
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Specialists
View all specialists →No specialists are currently listed for Combined immunodeficiency with facio-oculo-skeletal anomalies.
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 Combined immunodeficiency with facio-oculo-skeletal anomalies.
Community
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Caregiver Resources
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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.What is the severity of my child's immune deficiency, and what infections should we watch for?,Is my child a candidate for stem cell transplantation, and what are the risks and benefits?,What genetic testing has been done, and are there any identified gene mutations?,What specialists should be part of my child's care team?,How can we best protect my child from infections in daily life?,What are the expected effects on my child's growth, vision, and skeletal development over time?,Are there any clinical trials or research studies that my child might be eligible for?
Common questions about Combined immunodeficiency with facio-oculo-skeletal anomalies
What is Combined immunodeficiency with facio-oculo-skeletal anomalies?
Combined immunodeficiency with facio-oculo-skeletal anomalies is an extremely rare genetic condition that affects multiple body systems at the same time. The name describes its three main areas of impact: the immune system (combined immunodeficiency), the face and eyes (facio-oculo), and the bones and skeleton (skeletal anomalies). Children born with this condition have a weakened immune system, which means their body has trouble fighting off infections. Both the T-cells and B-cells of the immune system may be affected, leaving the child vulnerable to frequent and severe infections. In additio
How is Combined immunodeficiency with facio-oculo-skeletal anomalies inherited?
Combined immunodeficiency with facio-oculo-skeletal anomalies follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Combined immunodeficiency with facio-oculo-skeletal anomalies typically begin?
Typical onset of Combined immunodeficiency with facio-oculo-skeletal anomalies is infantile. Age of onset can vary across affected individuals.