Klippel–Feil syndrome (KFS) is a rare congenital disorder characterized by fusion of cervical vertebrae and accompanied by a wide spectrum of systemic anomalies. This narrative review summarizes current knowledge on the genetic basis, clinical spectrum, and rare associations of KFS with implications for multidisciplinary care. Recent genetic studies have identified variants in several developmental pathways, suggesting an emerging concept of oligogenic inheritance and variable expressivity. Clini-cally, beside the classic triad of short neck, low posterior hairline, and restricted cervical motion, pati-ents may present with scoliosis, Sprengel deformity, craniovertebral junction abnormalities, split cord malformations, posterior fossa lesions, and genitourinary and cardiovascular anomalies. Otologic invol-vement, including conductive or sensorineural hearing loss and cochlear implant challenges, further complicates management. Awareness of potential difficult airway and spinal cord vulnerability is cru-cial for anesthesiologists and surgeons. Early recognition, systematic screening for associated anomalies, and coordinated follow-up are essential to prevent complications and optimize long-term outcomes. We narratively reviewed recent clinical, radiologic, and genetic literature to contextualize reported prevalen-ces and rare associations.
Akıllı et al. (Sun,) studied this question.