Klippel-Feil Syndrome 2, Autosomal Recessive

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OMIM 57 214300 MedGen 42 C1859209 MeSH 44 D007714

SNOMED-CT via HPO 69 258211005 63567004 87979003 80281008 253255002 44057004 60700002 95427009 79120002 253549006 30288003 111266001 64217002 388981000 5601008 more UMLS 73 C1859209

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)

MalaCards based summary : Klippel-Feil Syndrome 2, Autosomal Recessive, also known as kfs2, is related to 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 short neck and scoliosis

UniProtKB/Swiss-Prot : ⁷⁵ Klippel-Feil syndrome 2, autosomal recessive: 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.

Clinical features from OMIM:

214300

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