Living with Muenke syndrome
A genetic condition in which certain skull bones close too early, changing the shape of the head and face.
Understanding Muenke syndrome
Many people have early fusion along the coronal suture, the growth line that runs over the head from ear to ear. This can cause an unusually shaped head, wide-set eyes, and flattened cheekbones. About 5 percent have a large head. Hands or feet may have mild differences, and some have hearing loss. Most people have normal intelligence, but developmental delay and learning problems are possible. Some people with the gene change have none of the features.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Early closure of the skull's coronal suture (craniosynostosis)
- Short, broad skull shape
- Wide-set eyes
- Flattened cheekbones
- Hearing loss from inner ear changes
- Mild differences in the hands and feet
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 FGFR3 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 Born A Hero Research 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
This condition is caused by changes in the FGFR3 gene. It is autosomal dominant, which means a changed copy of the gene from one parent can be enough to cause it.
Also known as: fgfr3-related craniosynostosis; fibroblast growth factor receptor 3 (fgfr3) related craniosynostosis; fibroblast growth factor receptor 3-related craniosynostosis; mnkes; muenke nonsyndromic coronal craniosynostosis
Patient organizations
- Born A Hero Research FoundationMuenke syndrome · United States
- Craniosynostosis and Positional Plagiocephaly Support IncMuenke syndrome · United States
- 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 Muenke syndrome.
Explore research for Muenke syndrome
Explore actively recruiting Muenke syndrome studies with HealthSpark.
Find actively recruiting studies for Muenke 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 Muenke 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 Muenke 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 Muenke 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.