Conditions / Genetic

craniosynostosis 1

info · Genetic

A craniosynostosis that has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21.

Signs and symptoms

  • Aortic valve stenosis
  • Scaphocephaly
  • Craniosynostosis
  • Oxycephaly
  • Biparietal narrowing
  • Sagittal craniosynostosis
  • Turricephaly
  • Systolic heart murmur
  • Right unicoronal synostosis
  • Prominent forehead

Also known as: CRS1