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)