Craniosynostosis, Philadelphia type

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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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version May 2024

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Craniosynostosis, Philadelphia type?

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