1539. Demographics, Presentation and Symptoms of Patients with Klippel-Feil Syndrome: Analysis of a Global Patient Reported Registry
Authors: Aria Nouri; Kishan Patel, BS; Hardy Evans, BA; Mohamed Saleh, MD; Mark Kotter, MD, PhD; Robert Heary, MD; Enrico Tessitore, MD; Michael Fehlings, MD, PhD; Joseph Cheng (Cincinnati, OH)
Klippel-Feil Syndrome (KFS) occurs due to failure of vertebral segmentation during development. Minimal research has been done to understand the prevalence of associated symptoms and pain. Here, we report one of the largest collections of KFS patient data.
Data was obtained from the CoRDS registry. Participants with cervical fusions were categorized into Type I, II, or III based on the Samartzis criteria. Symptoms and comorbidities were assessed against type and location of fusion.
75 patients (60 female/14 male/1 unknown) were identified and classified as: Type I, n=21(28%); Type II, n=15(20%); Type III, n=39(52%). Cervical fusion by level were: OC-C1, n=17 (22.7%), C1-C2, n=24 (32%); C2-C3, n=42 (56%); C3-C4, n=30 (40%); C4-C5, n=42 (56%); C5-C6, n=32 (42.7%); C6-C7, n=25 (33.3%); C7-T1, n=13 (17.3%). 94.6% of patients reported current symptoms, and the average age when symptoms began and worsened was 17.5 (±13.4) and 27.6 (±15.3), respectively. Patients reported an average of 12.5±7.1 comorbidities, and 12.2±6.3 general and chronic symptoms. Sprengel deformity was reported in 26.7%. Multilevel fusions (Samartzis II or III) were associated with dizziness (p=0.040), limited range in spine motion (p=0.022), and Sprengel deformity (p=0.036). Patients with cervical fusions: (1) in the upper region were more likely to report missing ribs (p=0.018), CCJ abnormalities (p=0.022), cervical instability (p=0.001), and mirror movements in hand (p=0.041); (2) in the middle region were more likely to report osteoarthritis (p=0.019), headaches, migraines, and/or head pain (p=0.007); (3) in the lower region were more likely to report mirror movements in hand (p=0.026), Spina Bifida Occulta (p=0.029) and cord tethering (p=0.049).
KFS is associated with multiple musculoskeletal and neurological problems. Fusions are more prevalent toward the center of the cervical region, and less common at the occipital and thoracic junctions. Associated comorbidities including Sprengel Deformity may be more common with multilevel cervical fusions.