Craniosynostosis, Philadelphia type

Orpha code: 1527OMIM code: 185900

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.

Disease data
Classification

Malformation syndrome

ORPHA code
1527
OMIM code
185900
ICD10 code
Q87.0
ICD11 code
LD24.GY

No additional description.

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