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
Srbs anomaly
Sprengels deformityThe 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
Mutations of the GDF6, GDF3 and MEOX1 gene are associated with KFS. The cause of the condition is unknown in individuals with KFS who do not have mutations of these two genes. GDF6 and GDF3 provide the body with instructions for making proteins involved in regulating the growth and maturation of bone and cartilage. GDF6 specifically is involved in the formation of vertebral bones, among others, and establishing boundaries between bones in skeletal development. GDF3 is involved with bone and cartilage growth. Mutations of GDF6, GDF3 and MEOX1 cause a reduced number of functional proteins that are coded by these genes, but it is unclear exactly how a shortage in these proteins leads to incomplete separation of the vertebrae in people with KFS. However, when the GDF6 gene was removed in mice, the result was the fusion of bones.These mutations can be inherited in two ways:

Autosomal dominant inheritance, where one copy of the altered gene in each cell is sufficient to cause the disorder, is especially associated with C2-C3 fusion.
Tuberculoid leprosy is a form of leprosy characterized by solitary skin lesions that are asymmetrically distributed with few lesions and well demarcated edges. There is also early and marked nerve damage. It tends to heal spontaneously. : 345  Tuberculoid leprosy is characterized by the formation of epithelioid cell granulomas with a large number of epithelioid cells. In this form of leprosy Mycobacterium leprae are either absent from the lesion or occur in very small numbers. This type of leprosy is the most benign and the least contagious. See also
Leprosy
Skin lesion

References


== External links ==