Cervical Fusion Syndrome

Cervical Fusion Syndrome is a congenital abnormality that is characterized by the fusion or joining of any two of the seven sets of bones of the vertebral column. People who have it can be identified mainly by a short neck. People with Cervical Fusion Syndrome may also have other deformities like an abnormal brain stem. It is known as Klippel and Feil Syndrome, after the scientists who identified it in 1912. The National Health Institute estimates that occurs in roughly 1 out of every 40,000 births.

Symptoms

• Those with Cervical Fusion Syndrome are sometimes identifiable by their appearance but this is not always the case. It is almost impossible to classify people with this disease, given the disparateness and diversity of symptoms. When they discovered this abnormality, Klippel and Feil identified three levels of syndromes, based on the part(s) of body affected and the extent of malformation. These are Type I, in which there is an immense malformation of the cervical spine; Type II, in which patients have fusion of one or two vertebrae, and Type III, which is identifiable by presence of thoracic and lumbar spine abnormalities, which usually occur in conjunction with the other two types. Although most cases occur in childhood, some people develop it in adulthood as well.

Risk Factors

• Although there is no irrefutable link between family history and cervical fusion, there exist strong indications, if not evidence to suggest that Cervical Fusion Syndrome runs in families. In some cases, as many as four, and rarely, even five consecutive generations have had this impairment. Some twins are also known to both be affected by this condition.

Associated Abnormalities

• Cervical Fusion Syndrome also brings with it related abnormalities. These can range from kidney and rib malformations; scoliosis, deafness; voice impairment; facial asymmetry and heart abnormalities. Kidney abnormalities include the absence of a kidney, or the existence of a horseshoe-shaped kidney; dilation of the renal pelvis or double collection system.

Treatment

• Treatment for Cervical Fusion Syndrome has to be administered on an individual basis. The most common mode of treatment involves tackling related ailments. For example, in suitable cases, an orthopedic surgeon could help in correcting deformities of the vertebrae. In other cases, a nephrologist could treat the kidney impairment, although the kidney impairment is a byproduct of the problem, and is not the root cause of the problem.

Prognosis

• Since the cause of the condition and the rate of progression are not clear, the National Health Institute states that it is difficult to make a prognosis for someone born with abnormality. There have been cases in which surgery and other treatments have helped patients lead normal lives but this is not always the case. Like most congenital diseases, the best chances for cure lie in early detection.