Living with Acalvaria
An extremely rare condition present at birth in which the flat bones of the skull are missing.
Understanding Acalvaria
The base of the skull and the face are fully formed and usually look normal. A layer of skin covers the brain, and the brain's hemispheres look normal. This helps tell it apart from anencephaly. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing skull bones (cranial defect)
- Brain development differences
- Small or absent cerebellum
- Extra little finger
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons)
- 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
The cause of acalvaria is still unknown.
Also known as: absent bone maturation of skullcap; absent ossification of calvaria; absent ossification of skull vault; acrania; primary acalvaria
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 Acalvaria.
Explore research for Acalvaria
Explore actively recruiting Acalvaria studies with HealthSpark.
Find actively recruiting studies for Acalvaria with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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