Living with Craniofrontonasal syndrome
A rare X-linked condition in which skull bones close early, shaping the head and face, usually more severe in females.
Understanding Craniofrontonasal syndrome
The coronal suture, the growth line from ear to ear, closes early. People may have an uneven face, wide-set eyes, crossed eyes, a split in the nose tip, a wide nose bridge, or a cleft lip with or without cleft palate. Some have a missing or underdeveloped corpus callosum, though intelligence is usually unaffected. Females usually have more severe signs than males.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Early closure of skull bones (craniosynostosis)
- Uneven face (facial asymmetry)
- Wide-set eyes
- Cleft lip or palate
- Extra or joined fingers
- Very flexible joints
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, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in EFNB1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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); Brain and nervous system specialists (neurologists); 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 Craniosynostosis and Positional Plagiocephaly Support Inc 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
It is caused by changes in the EFNB1 gene. It is X-linked, meaning the gene is on the X chromosome.
Also known as: cfnd; cfns; craniofrontonasal dysostosis; craniofrontonasal dysplasia; craniofrontonasal dysplasia, x-linked dominant
Patient organizations
- Craniosynostosis and Positional Plagiocephaly Support IncCraniofrontonasal syndrome · United States
- FACES: The National Craniofacial AssociationCraniofrontonasal syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Craniofrontonasal syndrome.
Explore research for Craniofrontonasal syndrome
Explore actively recruiting Craniofrontonasal syndrome studies with HealthSpark.
Find actively recruiting studies for Craniofrontonasal 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 Craniofrontonasal 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 Craniofrontonasal 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 Craniofrontonasal 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.