Klippel-Feil syndrome

Definition:

Klippel-Feil syndrome (KFS) is a rare disorder characterized by congenital fusion of two or more cervical vertebrae. Scoliosis, mirror movements, otolaryngological, kidney, ocular, cranial, limb, and/or digit anomalies are often associated. It has been reported that KFS is caused by mutations in the GDF6 or GDF3 genes in an autosomal dominant manner. KFS is also inherited in an autosomal recessive manner. Recently, involved genes (MEOX1 and MYO18B) have been identified.

References:

[1]. Anas M Alazami, et al. A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B. J Med Genet. 2015 Jun;52(6):400-4. [Content Brief]

[2]. B A Smith, et al. Klippel-Feil syndrome. Ann Emerg Med. 1992 Jul;21(7):876-9. [Content Brief]

[3]. Fatih Bayrakli, et al. Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype. BMC Genet. 2013 Sep 28;14:95. [Content Brief]

[4]. Ibrahim S Farid, et al. Multiple anesthetic challenges in a patient with Klippel-Feil Syndrome undergoing cardiac surgery. J Cardiothorac Vasc Anesth. 2003 Aug;17(4):502-5. [Content Brief]

[5]. May Tassabehji, et al. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Hum Mutat. 2008 Aug;29(8):1017-27. [Content Brief]

[6]. Ming Ye, et al. Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. Hum Mol Genet. 2010 Jan 15;19(2):287-98. [Content Brief]

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