Living with Craniosynostosis, Philadelphia type
A form of early skull closure with a long, narrow head shape and joined fingers and toes.
Understanding Craniosynostosis, Philadelphia type
The face looks relatively typical. The head shape comes from early closure of a skull seam along the top of the head (sagittal craniosynostosis). The hand findings vary from person to person, and not everyone with the gene change has skull closure. GARD says it has been suggested to share the same cause as syndactyly type 1A.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Early closure of skull bones (craniosynostosis)
- Joined fingers (syndactyly)
- Long, narrow head
- Joined toes
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 FACES: The National 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
GARD says changes in genes cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough. Hand findings vary, and not everyone with the gene change has skull closure. GARD doesn't name a gene.
Also known as: craniosynostosis philadelphia type
Patient organizations
- FACES: The National Craniofacial AssociationCraniosynostosis, Philadelphia type · 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 Craniosynostosis, Philadelphia type.
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