Living with Cranioosteoarthropathy
A rare genetic condition with late-closing skull soft spots, clubbed fingers and toes, joint swelling, and thick bone lining.
Understanding Cranioosteoarthropathy
It features delayed closing of skull seams and soft spots, clubbed fingers and toes (digital clubbing), joint disease (arthropathy), and thickening of the bone lining (periostosis). It starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Late-closing soft spots on the skull
- Clubbed toes
- Joint pain and swelling
- Joint stiffness
- Arthritis
- Mottled skin color
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 HPGD 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
It is caused by changes in the HPGD gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: coa; cranio-osteoarthropathy; currarino disease; currarino idiopathic osteoarthropathy; reginato-schiapachasse syndrome
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 Cranioosteoarthropathy.
Explore research for Cranioosteoarthropathy
Explore actively recruiting Cranioosteoarthropathy studies with HealthSpark.
Find actively recruiting studies for Cranioosteoarthropathy 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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