Orphanet: Craniosynostosis, Philadelphia type
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Craniosynostosis, Philadelphia type

Disease 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.

ORPHA:1527

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q87.0
  • ICD-11: LD24.GY
  • OMIM: 185900
  • UMLS: C1832590
  • MeSH: -
  • GARD: 1601
  • MedDRA: -

  A summary on this disease is available in Deutsch (2015) Español (2015) Français (2015) Italiano (2015) Nederlands (2015)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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