Klippel Feil syndrome is a rare disease, initially reported in 1912 by Maurice Klippel and Andr Feil from France,[1]

characterized by the congenital fusion of any 2 of the 7 cervical vertebrae.[2]:578 In fact, "Klippel-Feil syndrome" occurs in a heterogeneous group of patients unified only by the presence of a congenital defect in the formation or segmentation of the cervical spine.

Signs and symptoms

Numerous associated abnormalities of other organ systems may be present. This heterogeneity requires comprehensive evaluation of all patients and treatment regimes that can vary from modification of activities to extensive spinal surgeries. Furthermore, it is unclear whether KlippelFeil syndrome is a discrete entity, or if it is one point on a spectrum of congenital spinal deformities. The most common signs of the disorder are a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. Associated abnormalities may include:
y y y y y y

scoliosis (side-to-side curvature of the spine), spina bifida, anomalies of the kidneys and the ribs, cleft palate, respiratory problems, and heart malformations.

The disorder also may be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, fingers and a heart defects. These heart defects almost always lead to stunted ages in patients, the average being 35-45 years of age among males and 40-50 among women. This condition is similar to the heart failure seen in gigantism.