Clinical Characteristics

Mutations in MEOX1 gene may cause the following signs and symptoms:

  • Short neck
  • Restriction of neck mobility
  • Fusion of cervical vertebrae
  • Abnormal size of the opening of the base of the skull through which the spine passes
  • Scoliosis (Sideway curvature of the spine)
  • Elevated scapulae (Shoulder blade)
  • Low hairline at the back of the head
  • Omovertebral bone (Extra bone between the scapula and the vertebral body)
  • Defect in the wall of the heart (rare)
  • Hearing loss (rare)
  • Abnormally shaped ears (rare)
  • Cleft lip (rare)
  • Cleft palate (rare)
  • Pierre-Robin sequence (set of abnormalities consisting of a small lower jaw, a tongue that is placed further back than normal, and blockage of the airways) (rare)
  • Congenital drooping of the eyelid (rare)