Living with Craniosynostosis-intracranial calcifications syndrome
A form of early skull closure with calcium deposits in the brain, mild facial differences, and normal intelligence.
Understanding Craniosynostosis-intracranial calcifications syndrome
The head is smaller than expected from the parents' head size. People have mild facial differences, such as prominent brow ridges, slightly bulging eyes, and an underdeveloped upper jaw. The calcium deposits are in the basal ganglia. GARD describes a favorable neurological outcome and normal intelligence. It starts in newborns and infants.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary mentions these:
- Early closure of all skull seams
- Smaller head than expected
- Mild facial differences
- Calcium deposits in a brain area (basal ganglia)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial 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 World Craniofacial Foundation and other patient organizations
- 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. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. GARD doesn't name a gene.
Also known as: craniosynostosis, calcification of basal ganglia, and facial dysmorphism; longman-tolmie syndrome
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Craniosynostosis-intracranial calcifications syndrome.
Explore research for Craniosynostosis-intracranial calcifications syndrome
Explore actively recruiting Craniosynostosis-intracranial calcifications syndrome studies with HealthSpark.
Find actively recruiting studies for Craniosynostosis-intracranial calcifications syndrome 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Craniosynostosis-intracranial calcifications syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Craniosynostosis-intracranial calcifications syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Craniosynostosis-intracranial calcifications syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.