Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck ... Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100).
Ye et al. (2010) described a 3-generation North American family with a spectrum of ocular and skeletal phenotypes. The proband had unilateral iris, retinal coloboma, rudimentary 12th ribs, and mild scoliosis. Her mother and aunt had Klippel-Feil cervical ... Ye et al. (2010) described a 3-generation North American family with a spectrum of ocular and skeletal phenotypes. The proband had unilateral iris, retinal coloboma, rudimentary 12th ribs, and mild scoliosis. Her mother and aunt had Klippel-Feil cervical fusion at C5-6 and C3-4, respectively, and her grandfather had lumbar and thoracic scoliosis.
In a 3-generation North American family with Klippel-Feil syndrome, Ye et al. (2010) identified a heterozygous missense mutation (606522.0001) in the GDF3 gene that segregated with the skeletal phenotype in 4 family members.