What are the causes of Klippel Feil Syndrome?

Klippel Feil syndrome is a bone disorder characterized by the abnormal joining of two or more spinal bones in the neck. The condition is present at birth; however it may go undetected for years in cases with insignificant symptoms. In some cases the syndrome may go diagnosed until an accident causes pain or worsens the symptoms.

The syndrome usually causes in limited range of motion in the neck or/and short neck or/and low hairline at the back of the head. These are the three classic features of the condition, however less than fifty percent cases have all three characteristics. Mostly people affected with the condition have either one or two of these features.

The fused vertebrae can cause pain in the neck region. It can also lead to nerve damage in the head, neck, or back. The characteristics of the condition usually don’t cause any health problem until aggravated by a spinal injury. The syndrome can also occur with other syndromes such as Goldenhar syndrome, fetal alcohol syndrome and abnormalities of the arms or legs.

Symptoms

The common symptoms of the syndrome usually include short neck and low hairline, twisted neck, congenital scoliosis, spina bifida, organ (kidney, heart) malformation, respiratory problems, neurological deficits, synkinesia, cleft palate, hearing issues and pain.

Causes

The exact causes of the Klippel-Feil syndrome remain unknown, however over the years researchers have been able to link mutations of GDF6 and GDF3 genes to the syndrome. According to the researchers the syndrome forms in utero when the GDF6 or GDF3 genes mutate.

The GDF6 and GDF3 genes provide instructions for making proteins that belong to the bone morphogenetic protein family. Such proteins are involved in regulating the growth and maturation of bone and cartilage. The GDF3 protein is somehow involved in bone and cartilage development, however more research is needed to find its exact role. On the other hand, the GDF6 protein plays a crucial role in the formation of many bones and joints in the limbs, skull, spine, chest, and ribs.

However, there are also some cases where people affected with the Klippel-Feil syndrome do not have the identified mutations in the GDF6 or GDF3 genes. The causes of the condition in such cases are unknown.

Treatment

There is no cure available for Kilppel-Feil syndrome. Treatment is usually recommended to treat the problems caused by the syndrome such as spinal curvatures, muscle weaknesses or heart. In cases where some other conditions are also present along with the Kilppel-Feil syndrome at birth, these other conditions may be treated when the child is young.

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