OMIM®:
57
Klippel-Feil syndrome 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). (613702) (Updated 08-Dec-2022)
MalaCards based summary:
Klippel-Feil Syndrome 3, Autosomal Dominant, is also known as kfs3. An important gene associated with Klippel-Feil Syndrome 3, Autosomal Dominant is GDF3 (Growth Differentiation Factor 3). Affiliated tissues include bone, and related phenotypes are iris coloboma and chorioretinal coloboma
UniProtKB/Swiss-Prot:
73
A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement.