Conditions / Genetic

craniosynostosis 6

info ยท Genetic

A craniosynostosis that has_material_basis_in heterozygous mutation in the ZIC1 gene on chromosome 3q24.

Signs and symptoms

  • Craniosynostosis
  • Bicoronal synostosis
  • Strabismus
  • Cerebellar atrophy
  • Global developmental delay
  • Hypotonia
  • Microcephaly
  • Ptosis
  • High forehead
  • Lateral ventricle dilatation

Also known as: CRS6