Conditions / Genetic

craniosynostosis 2

info ยท Genetic

A craniosynostosis characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly that has_material_basis_in heterozygous mutation in the MSX2 gene on chromosome 5q35.

Signs and symptoms

  • Craniosynostosis
  • Frontal bossing
  • Bicoronal synostosis
  • Hypotelorism
  • Brachycephaly
  • Triphalangeal thumb
  • Hypermetropia
  • Visual field defect
  • Seizure
  • Cleft soft palate

Also known as: CRS2; Craniosynostosis Boston type; Craniosynostosis Warman type; Warman-Mulliken-Hayward syndrome