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craniosynostosis, Philadelphia type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

craniosynostosis, Philadelphia type

MONDO:0015467

Overview

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.

ResearchLimited published research (3 articles)

Clinical Presentation

Features include very common findings: Long palpebral fissure, Craniosynostosis, and Finger syndactyly.

Organ System	Phenotype Count	Example Features
Head and neck	1	Craniosynostosis
Arms and legs	1	Finger syndactyly

Explore clinical features

Prognosis

Phenotype severity distribution: 3 very common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for craniosynostosis, Philadelphia type.

3 publications have been identified in PubMed for craniosynostosis, Philadelphia type. Research spans Clinical Trial Publication (67%) and Epidemiology / Natural History (33%).

Recent Publications

Romeo DJ (2026). [PMID: 41580524](https://pubmed.ncbi.nlm.nih.gov/41580524/). *Childs Nerv Syst*. [Clinical Trial Publication]
Ng JJ (2024). [PMID: 38922367](https://pubmed.ncbi.nlm.nih.gov/38922367/). *Childs Nerv Syst*. [Clinical Trial Publication]
Landau-Prat D (2024). [PMID: 38722781](https://pubmed.ncbi.nlm.nih.gov/38722781/). *Ophthalmic Plast Reconstr Surg*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1527

GARD

Genetic and Rare Diseases Info Center

GARD:1601

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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craniosynostosis, Philadelphia type

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team