klippel–feil syndrome klippel–feil syndrome klippel–feil syndrome (kfs), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck (cervical vertebrae).: 578 it results in a limited ability to move the neck and shortness of the neck, resulting in the appearance of a low hairline. klippel-feil syndromeother namescongenital dystrophia brevicollis, cervical vertebral fusion syndromewoman with klippel–feil syndromepronunciation/ˌklɪ.pəl ˈfaɪl/ specialtypaediatrics, orthopaedicssymptomscervical spine fusion, scoliosis, spina bifida, heart defect, respiratory problems, other syndromic featuresusual onsetcongenitalcausesgenetic mutationsrisk factorsfamily historyprognosisshorter life expectancy in some casesfrequency1 in 40,000 to 42,000 births, females more affected than males the syndrome is difficult to diagnose, as it occurs in a group of patients affected with many different abnormalities who can only be unified by the presence of fused or segmental cervical vertebrae. kfs is not always genetic and not always known about on the date of birth. the disease was initially reported in 1884 by maurice klippel and andré feil from france. in 1919, in his doctor of philosophy thesis, andré feil suggested another classification of the syndrome, encompassing not only deformation of the cervical spine, but also deformation of the lumbar and thoracic spine. signs and symptoms ct scan showing fused cervical vertebrae and sprengel's deformity (arrow), as seen in klippel–feil syndrome kfs is associated with many other abnormalities of the body, hence thorough evaluation of all patients with fused cervical vertebrae at birth is required. furthermore, it is unclear whether kfs is a unique disease, or if it is one part of a spectrum of congenital spinal deformities. kfs is usually diagnosed after birth. the most common signs of the disorder are restricted mobility of the neck and upper spine and a shortened neck with the appearance of a low hairline at the back of the head. associated abnormalities may include: scoliosis (sideways curvature of the spine) spina bifida problems with the kidneys and the ribs cleft palate dental problems (delayed dentition, cavities, missing teeth) respiratory problems heart defects short stature duane syndrome srb's anomaly sprengel's deformity the disorder also may be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs and fingers. genetics