Living with Infantile cortical hyperostosis
A bone condition in babies with extra bone growth, swelling, pain, and fever, usually seen by 5 months.
Understanding Infantile cortical hyperostosis
It causes extra new bone to form, mainly in the jaw, shoulder blades, collarbones, and long bones of the arms and legs. Bones may double or triple in width on x-ray. Babies also have swollen joints and soft tissues with pain and redness, and may be feverish and irritable. Signs usually show by 5 months.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thickened bones
- Fever
- Swelling and redness over affected areas
- Skin and soft tissue pain or tenderness
- Irritability
- Skin infection (cellulitis)
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 bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in COL1A1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
Changes in the COL1A1 gene cause this condition. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene can be enough.
Also known as: caffey disease; caffey syndrome; caffey's disease; cortical congenital hyperostosis; familial infantile cortical hyperostosis; hyperostosis, cortical, congenital
Patient organizations
Rare-disease groups that can help
- 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 Infantile cortical hyperostosis.
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