Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:1527

Craniosynostosis, Philadelphia type

Body system
Bone diseases
Inheritance pattern
Autosomal dominant
Typical age of onset
Neonatal
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

ORPHA:1527 is classified under "Bone diseases" in the Orphanet nomenclature.

Common signs

  • Long palpebral fissure
  • Craniosynostosis
  • Finger syndactyly