congenital abnormality Klippel-Feil syndrome DOID:10426 GARD:0010280 ICD10:Q76.1 ICD9:756.16 Klippel Feil syndrome Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy. Klippel-Feil Sequence Klippel-Feil and Turner syndrome Klippel-Feil deformity, deafness and facial asymmetry MESH:D007714 MONDO:0001029 NCIT:C98967 OMIMPS:118100 SCTID:5601008 Usage notes: this class includes both isolated forms and forms that are features of other syndromes autosomal dominant Klippel-Feil syndrome cervical vertebral fusion congenital dystrophia brevicollis congenital synostosis of cervical vertebrae https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome Mendelian disease