Review of cervical spine anomalies in genetic syndromes

Spine (Phila Pa 1976). 2012 Mar 1;37(5):E269-77. doi: 10.1097/BRS.0b013e31823b3ded.


Study design: Focused review of the literature.

Objective: Assist spine specialists in diagnosis and treatment of cervical spine anomalies found in selected genetic syndromes.

Summary of background data: Cervical spine instability and/or stenosis are potentially debilitating problems in many genetic syndromes. These problems can be overlooked among the other systemic issues more familiar to clinicians and radiologists evaluating these syndromes. It is imperative that spine specialists understand the relevant issues associated with these particular syndromes.

Methods: The literature was reviewed for cervical spine issues in 10 specific syndromes. The information is presented in the following order: First, the identification and treatment of midcervical kyphosis in Larsen syndrome and diastrophic dysplasia (DD). Next, the upper cervical abnormalities seen in Down syndrome, 22q11.2 Deletion syndrome, pseudoachondroplasia, Morquio syndrome, Goldenhar syndrome, spondyloepiphyseal dysplasia congenita, and Kniest dysplasia. Finally, the chin-on-chest deformity of fibrodysplasia ossificans progressiva.

Results: Midcervical kyphosis in patients with Larsen syndrome and DD needs to be evaluated and imaged often to track deformity progression. Upper cervical spine instability in Down syndrome is most commonly caused by ligamentous laxity at C1 to C2 and occiput-C1 levels. Nearly 100% of patients with 22q11.2 deletion syndrome have cervical spine abnormalities, but few are symptomatic. Patients with pseudoachondroplasia and Morquio syndrome have C1 to C2 instability related to odontoid dysplasia (hypoplasia and os odontoideum). Morquio patients also have soft tissue glycosaminoglycan deposits, which cause stenosis and lead to myelopathy. Severely affected patients with spondyloepiphyseal dysplasia congenita are at high risk of myelopathy because of atlantoaxial instability in addition to underlying stenosis. Kniest syndrome is associated with atlantoaxial instability. Cervical spine anomalies in Goldenhar syndrome are varied and can be severe. Fibrodysplasia ossificans progressiva features severe, deforming heterotopic ossification that can become life-threatening.

Conclusion: It is important to be vigilant in the diagnosis and treatment of cervical spine anomalies in patients with genetic syndromes.

Publication types

  • Review

MeSH terms

  • Cervical Vertebrae / abnormalities*
  • Cervical Vertebrae / pathology
  • Congenital Abnormalities / genetics
  • Congenital Abnormalities / pathology
  • Congenital Abnormalities / physiopathology*
  • Genetic Diseases, Inborn / complications*
  • Genetic Diseases, Inborn / genetics
  • Genetic Diseases, Inborn / physiopathology*
  • Humans
  • Spinal Diseases / diagnosis
  • Spinal Diseases / genetics*
  • Spinal Diseases / physiopathology*