| H00852 | |
| H number | H00852 |
| Name | Klippel-Feil syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | (KFS1) GDF6 [HSA:392255] [KO:K20012] (KFS2) MEOX1 [HSA:4222] [KO:K09322] (KFS3) GDF3 [HSA:9573] [KO:K22672] (KFS4) MYO18B [HSA:84700] [KO:K10362] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LB73.20 ICD-10: Q76.1 MeSH: D007714 OMIM: 118100 214300 613702 616549 |
| Reference | PMID:1610048 AUTHORS Smith BA, Griffin C TITLE Klippel-Feil syndrome. JOURNAL Ann Emerg Med 21:876-9 (1992) DOI:10.1016/S0196-0644(05)81038-8 PMID:12968241 AUTHORS Farid IS, Omar OA, Insler SR TITLE Multiple anesthetic challenges in a patient with Klippel-Feil Syndrome undergoing cardiac surgery. JOURNAL J Cardiothorac Vasc Anesth 17:502-5 (2003) DOI:10.1016/S1053-0770(03)00159-9 PMID:18425797 AUTHORS Tassabehji M, Fang ZM, Hilton EN, McGaughran J, Zhao Z, de Bock CE, Howard E, Malass M, Donnai D, Diwan A, Manson FD, Murrell D, Clarke RA TITLE Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. JOURNAL Hum Mutat 29:1017-27 (2008) DOI:10.1002/humu.20741 PMID:19864492 AUTHORS Ye M, Berry-Wynne KM, Asai-Coakwell M, Sundaresan P, Footz T, French CR, Abitbol M, Fleisch VC, Corbett N, Allison WT, Drummond G, Walter MA, Underhill TM, Waskiewicz AJ, Lehmann OJ TITLE Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. JOURNAL Hum Mol Genet 19:287-98 (2010) DOI:10.1093/hmg/ddp496 PMID:24073994 AUTHORS Bayrakli F, Guclu B, Yakicier C, Balaban H, Kartal U, Erguner B, Sagiroglu MS, Yuksel S, Ozturk AR, Kazanci B, Ozum U, Kars HZ TITLE Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype. JOURNAL BMC Genet 14:95 (2013) DOI:10.1186/1471-2156-14-95 PMID:25748484 AUTHORS Alazami AM, Kentab AY, Faqeih E, Mohamed JY, Alkhalidi H, Hijazi H, Alkuraya FS TITLE A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B. JOURNAL J Med Genet 52:400-4 (2015) DOI:10.1136/jmedgenet-2014-102964 |