Living with Hyperostosis cranialis interna
A rare bone condition in which skull bones thicken slowly, pressing on nerves that affect smell, vision, hearing, and the face.
Understanding Hyperostosis cranialis interna
The thickened bone can squeeze cranial nerves (nerves that serve the senses and face). First symptoms often appear in the second decade of life. They include changes in smell, vision, facial feeling and movement, hearing, and balance. Headaches can occur from pressure in the eye and skull. After the fourth decade, changes on imaging are minimal.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Headache
- Lost sense of smell (anosmia)
- Hearing loss from inner ear changes
- Facial weakness (facial palsy)
- Balance problems
- Thick skull bones
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, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in SLC39A14 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); Ear, nose, and throat specialists (otolaryngologists); 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 SLC39A14 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: enlargement of the inner surface of the skull bones; excessive growth of inner surface of the skull bones; hyperostosis cranalis interna; hyperostosis cranialis interna (disease); hyperostosis of the internal surface of the cranial bone; hyperostosis of the internal surface of the cranial bones
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 Hyperostosis cranialis interna.
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