Living with Crouzon syndrome
A genetic condition in which some skull bones join too early, changing the shape of the head and face and affecting the eyes.
Understanding Crouzon syndrome
The early fusion prevents the skull from growing normally and affects the shape of the head and face. Shallow eye sockets can lead to wide-set, bulging eyes and vision problems, eyes that point in different directions, a beaked nose, and an underdeveloped upper jaw. People may also have dental problems and hearing loss. A few have a cleft lip and palate. Severity varies. People usually have normal intelligence.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Early closing of skull bones (craniosynostosis)
- Wide-set, bulging eyes
- Crossed eyes (strabismus)
- Underdeveloped upper jaw
- Hearing loss
- Higher pressure inside the skull
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in FGFR2 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
American Cleft Palate Craniofacial Association and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: American Cleft Palate Craniofacial Association, 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 American Cleft Palate Craniofacial Association 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 FGFR2 gene. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: craniofacial dysostosis; craniofacial dysostosis type 1; craniofacial dysostosis, type i; crouzon craniofacial dysostosis; crouzon disease; crouzon's disease
Patient organizations
- American Cleft Palate Craniofacial AssociationCrouzon syndrome · United States
- Born A Hero Research FoundationCrouzon syndrome · United States
- Craniosynostosis and Positional Plagiocephaly Support IncCrouzon syndrome · United States
- FACES: The National Craniofacial AssociationCrouzon 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 Crouzon syndrome.
Explore research for Crouzon syndrome
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