OMIM®:
57
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).
Clarke et al. (1998) proposed a classification system for KFS in which an autosomal recessive form is characterized by the most rostral fusion at C1 and the presence of severe associated anomalies, including short neck, cardiac defects, and craniofacial anomalies.
For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100). (214300) (Updated 08-Dec-2022)
MalaCards based summary:
Klippel-Feil Syndrome 2, Autosomal Recessive, also known as klippel-feil syndrome 2, is related to spondylocostal dysostosis 6, autosomal recessive and klippel-feil syndrome. An important gene associated with Klippel-Feil Syndrome 2, Autosomal Recessive is MEOX1 (Mesenchyme Homeobox 1). Affiliated tissues include bone, and related phenotypes are scoliosis and short neck
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.
Disease Ontology:
11
A Klippel-Feil syndrome that has material basis in homozygous mutation in the MEOX1 gene on chromosome 17q21.