Craniosynostosis, Philadelphia type

Orpha code: 1527OMIM code: 185900

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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