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craniosynostosis, Philadelphia type

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0015467:  craniosynostosis, Philadelphia type
GARD:0001601: 
Orphanet:1527: 
SCTID:720818003: