Conditions / Syndrome

vertebral hypersegmentation and orofacial anomalies

info ยท Syndrome

A syndrome characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs that has_material_basis_in heterozygous mutation in the GDF11 gene on chromosome 12q13.

Signs and symptoms

  • Supernumerary ribs
  • Inguinal hernia
  • Six lumbar vertebrae
  • Thickened helices
  • Unilateral cleft lip
  • Unilateral cleft palate
  • Widow's peak
  • Prominent occiput
  • Submucous cleft hard palate
  • Epicanthus

Also known as: VHO