Living with Combined immunodeficiency with faciooculoskeletal anomalies
A rare condition from birth with repeated infections plus nerve, eye, face and bone differences.
Understanding Combined immunodeficiency with faciooculoskeletal anomalies
People have repeated bacterial, viral and fungal infections. They may also have low muscle tone, balance problems, seizures, developmental delay and optic nerve changes. Facial differences and bone changes in the hands and feet are also described. It appears in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakened immune system with repeated infections
- Balance and coordination problems (ataxia)
- Yeast infection in the mouth (oral thrush)
- Facial differences
- Bone and finger differences
- Acid reflux
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists, bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Immune Deficiency Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition, but doesn't list a specific gene or inheritance pattern.
Also known as: combined immunodeficiency with faciooculoskeletal anomalies syndrome; combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay; roifman chitayat syndrome; roifman-chitayat syndrome; roifman-chitayat syndrome, digenic
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Combined immunodeficiency with faciooculoskeletal anomalies.
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