Living with Craniosynostosis 2
A genetic form of early skull closure (Boston type) that changes head shape, sometimes with hand and foot differences.
Understanding Craniosynostosis 2
Features include a prominent forehead, a short and tall head, and sometimes a cloverleaf-shaped skull. Other findings can include cleft palate, extra teeth, and limb differences such as a three-boned thumb and joined fingers. Problems can include headache, poor vision, and seizures. Intelligence is normal. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists this as the most common:
- Early closure of skull bones (craniosynostosis)
- Prominent forehead
- Headache
- Poor vision
- Seizures
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 MSX2 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); 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
It is caused by changes in the MSX2 gene. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: craniosynostosis boston type; craniosynostosis type 2; craniosynostosis warman type; craniosynostosis, boston type; craniosynostosis, warman type; crs2
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 2.
Explore research for Craniosynostosis 2
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- Recruiting studies from ClinicalTrials.gov
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- 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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