What is KFS
Both sporadic and familial (autosomal dominant) forms of the syndrome display clinical heterogeneity with variable degrees of vertebral fusion (Types I-III), spinal instability and associated disc degeneration, cranial and orofacial anomalies including cleft palate, facial dysmorphism, sensorineural and conductive hearing impairment, vocal impairment, carpal anomalies, appendicular hypoplasia, Sprengel deformity and short neck with low hair line as well as occasional broad spectrum anomalies of the heart, kidney, genitourinary system, eye including Wildervanck syndrome, mirror movements and other neurological anomalies.
KFS appears to be a multifactorial syndrome where most cases manifest either variable expressivity and/or unique associated anomalies (Clarke, et al., 1998). A number of chromosome abnormalities have also been associated with KFS providing candidate loci, for example, a translocation t(5;17)(q11.2;q23) in a sporadic KFS patient with associated brachydactyly (Fukushima, et al., 1995), and an inversion involving chromosome 2, inv(2)(p12q34) in a KFS patient with hypodontia (Papagrigorakis, et al., 2003). The few reported autosomal dominant families display variable anomalies including os odontoideum (Morgan, et al., 1989), basilar impression (Gunderson, et al., 1967), omovertebral bone (Larson, et al., 2001), cleft palate (Thompson, et al., 1998), Dubowitz syndrome (Takahira, et al., 2005), macrocephaly, and in one family with microcephaly a translocation t(5;8)(q35.1;p21.1) locus was found segregating with the syndrome (Goto, et al., 2006).
Both sporadic and familial (autosomal dominant) forms of the syndrome display clinical heterogeneity with variable degrees of vertebral fusion (Types I-III), spinal instability and associated disc degeneration, cranial and orofacial anomalies including cleft palate, facial dysmorphism, sensorineural and conductive hearing impairment, vocal impairment, carpal anomalies, appendicular hypoplasia, Sprengel deformity and short neck with low hair line as well as occasional broad spectrum anomalies of the heart, kidney, genitourinary system, eye including Wildervanck syndrome, mirror movements and other neurological anomalies.
KFS appears to be a multifactorial syndrome where most cases manifest either variable expressivity and/or unique associated anomalies (Clarke, et al., 1998). A number of chromosome abnormalities have also been associated with KFS providing candidate loci, for example, a translocation t(5;17)(q11.2;q23) in a sporadic KFS patient with associated brachydactyly (Fukushima, et al., 1995), and an inversion involving chromosome 2, inv(2)(p12q34) in a KFS patient with hypodontia (Papagrigorakis, et al., 2003). The few reported autosomal dominant families display variable anomalies including os odontoideum (Morgan, et al., 1989), basilar impression (Gunderson, et al., 1967), omovertebral bone (Larson, et al., 2001), cleft palate (Thompson, et al., 1998), Dubowitz syndrome (Takahira, et al., 2005), macrocephaly, and in one family with microcephaly a translocation t(5;8)(q35.1;p21.1) locus was found segregating with the syndrome (Goto, et al., 2006).
