Congenital Spine Conditions

Description

The transcript discusses two significant congenital spinal deformities that trainees in the medical field should be aware of: achondroplasia and Klippel-Feil syndrome.



Achondroplasia is a condition caused by a mutation in the FGFR3 gene, leading to overactivity of the FGFR3 protein, which disrupts normal bone growth. This results in short stature, averaging about 120 centimeters for adults, with disproportionately short arms and legs, a large head, and potential complications like spinal stenosis and sleep apnea. Most individuals with achondroplasia have normal intelligence and life expectancy.



Klippel-Feil syndrome is a rare condition characterized by the fusion of two or more cervical vertebrae during embryonic development. This fusion can lead to a short neck, limited neck movement, and possible skeletal and organ abnormalities, including cardiac issues. It is generally identified by a triad of symptoms: a short neck, a low posterior hairline, and a restricted range of neck motion. Imaging reveals fused cervical vertebrae and associated complications like scoliosis and potential spinal cord compression. Treatment is symptomatic, focusing on managing complications such as monitoring for spinal issues and improving mobility through physiotherapy, with surgery as a potential option for severe cases.

DOI: 10.1302/3114-251102

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