craniosynostosis, Philadelphia type
Findings
No curated finding names craniosynostosis, Philadelphia type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.
Definition from the Mondo Disease Ontology (MONDO:0015467), read 2026-09-29. CC BY 4.0.
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CraniosynostosisHPOHP:0001363
- Very frequent (80% to 99% of cases)
- Finger syndactylyHPOHP:0006101
- Very frequent (80% to 99% of cases)
- Long palpebral fissureHPOHP:0000637
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of