: Congenital fusion of two of the seven cervical vertebrae
Effect on the body and Symptoms
Klippel-Feil Syndrome is present from birth, features include a short neck, a low hairline at the back of the head, and a limited range of motion in the neck. Because of the miss shaping of the neck and back it alters the size and shape of the left or right side of the face. The neck and spinal cord can be damaged by a narrowing of the spinal, this can be very painful. Klippel-Feil Syndrome is a very painful just in general. KFS limits most of your movement because of the abnormality in the neck.
Causes of Klippel-Feil Syndrome
Klippel-Feil Syndrome affects the neck area where the bones in the spine (cervical vertebrae) have an abnormal joining, also known as fusion. Klippel-Feil is a mutation, the gene for this syndrome is directly for bones and joints and the protein developed for this gene has a role unclear causing the mutation. The genes involved GDF6, GDF3, or MEOX, these genes are mutated to make the protein separate the vertebrae from one another. There are cases as well where maternal alcoholism and fetal alcohol are associated with KFS. It is said that klippel feil syndrome is sex linked and autosomal dominant and recessive. The mutation is present in the chromosomes 17q21 and chromosome 12p13.
Treatment and Diagnosis
There are treatments for KFS, there is medical therapy but it depends on the congenital anomalies present. You can be refereed to a primary care physician, nephrologists, urologists, audiologists, or otologists. There is also surgical therapy as well but it is only in some cases surgery will work. Klippel Feil syndrome is diagnosed through a molecular genetics text which include: sequence analysis of the entire coding region, deletion/duplication analysis, targeted variant analysis, and sequence analysis of select exons.
Klippel-Feil Syndrome Freedom Rare Disease Day 2016
Who Klippel Feil mostly affects
KFS is more likely to affect females more than it is to affect males. The percentage for females getting this mutation is approximately 65 percent. This condition occurs in one out of 42,000 to 50,000 live births,
Klippel-Feil Syndrome and Rare Disease Awareness