Klippel-Feil syndrome is a rare disorder caused by failure of the division of the bones in the cervical (neck) section of the spinal column during embryonic development. Presentation may occur at any time of life and due to its variable nature it may be an incidental finding when a patient is being investigated for another reason.
Three types of Klippel-Feil syndrome have been described and these depend upon the number of vertebrae joined together and whereabouts in the spine they are joined.
Type I involves fusion of a number of bones in the neck and the upper part of the back resulting in the formation of bony blocks.
Type II is the commonest type of Klippel-Feil syndrome and involves the whole spine from the neck down to the low back. Commonly, two or three bones are joined together, but there may also be some abnormally shaped vertebrae such as hemi-vertebrae (this means the absence of half a bone).
Type III involves almost the whole of the spine from the neck down to the lower back.
Medical text written October 2002 by Contact a Family. Approved October 2002 by Dr K Metcalfe, Consultant Clinical Geneticist, St Mary’s Hospital, Manchester, UK. Last updated October 2009 by Dr K Leask, Specialist Registrar in Clinical Genetics, St Mary’s Hospital, Manchester, UK.
Common signs are short neck, impaired movement of the head and neck especially from side to side and a low hairline at the back of the neck and low-set or underdeveloped ears. The extent to which individuals are affected by these features can vary widely, ranging from mild cosmetic concerns to more severe impairment. Those with more severe problems tend to present earlier in life.
Other features associated with Klippel-Feil syndrome include: scoliosis; spina bifida occulta, an extremely mild form of spina bifida; one shoulder blade higher than the other (sprengel deformity of the shoulder); kidney and urinary tract problems; cleft palate (see entry Cleft Lip and/or Palate); fusion of two or more ribs; problems with movements including when one side of the body is moved, the other side wanting to do exactly the same (otherwise known as mirror movements); and hearing problems (see entry Deafness). Sometimes the larynx (voice box) can be involved causing problems with vocalising.
Patients may present with symptoms at any age and therefore a diagnosis may not be made until later in life. Diagnosis is made clinically on examination of the patient, in conjunction with the specific X-ray findings. Typically, these involve at least two of the seven bones in the neck (otherwise known as the cervical vertebrae) being joined together or fused. Fusion or anomalies of vertebrae in the thoracic (chest area) or lower back may also be seen in Klippel-Feil syndrome.
Klippel-Feil syndrome is associated with conditions including MURCS Association and Wildervanck syndrome.
Only females are affected with MURCS Association. In this condition the Klippel-Feil anomaly is associated with kidney abnormality and underdevelopment of the female reproductive organs, the uterus, fallopian tubes and vagina. The problems may range from very mild, in which all the organs are present but the uterus may be slightly small or an unusual shape, to more severe when the uterus and tubes may be completely absent. Sometimes, there may actually be a double uterus and vagina. MURCS may be found to be the problem when a woman has fertility problems.
Wildervanck syndrome is also more likely to be found in females than males. The Klippel-Feil anomaly is associated with sensorineural (nerve) deafness and eye problems so that there is a squint with the eyes looking inwards. This specific eye problem associated with Wildervanck syndrome is known as Duane Retraction syndrome.
Complications associated with Klippel-Feil syndrome do not normally develop before the age of 25 years and may be treated surgically. Individuals with Klippel-Feil syndrome usually have a normal lifespan. Activities that can injure the neck should be avoided.
Most cases of Klippel-Feil occur sporadically. In these cases, no other family members are affected. In a few families, Klippel-Feil syndrome is inherited as an autosomal dominant or an autosomal recessive trait.
Some of the features of Klippel-Feil syndrome outlined above may be identified by ultrasound examination.
There is no support group for Klippel-Feil syndrome in the UK. Cross referrals to other entries in Contact’s directory are intended to provide relevant support for those particular features of the disorder. Organisations identified in those entries do not provide support specifically for Klippel-Feil syndrome.
Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.