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. 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. The extent to which individuals are affected by these features can vary widely, ranging from mild cosmetic concerns to more severe impairment.

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; 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). Complications associated with Klippel-Feil syndrome do not normally develop before the age of twenty-five 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.

When individuals with Klippel-Feil syndrome are examined specific X-ray findings are seen. 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.

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 the bones in the neck and the upper part of the back.

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.

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.

Wildervanck syndrome is also more likely to be found in females than males. The Klippel-Feil anomaly is associated with deafness and with eye problems so that the eyes tend to look inwards. This specific eye problem associated with Wildervanck syndrome is known as Duane Retraction syndrome.

Inheritance patterns
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.

Prenatal diagnosis
Some of the features of Klippel-Feil syndrome may be identified by ultrasound examination.

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.

Further Online Resources
Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our Medical Information on the Internet article.

There is no support group for Klippel-Feil syndrome. Cross referrals to other entries in The Contact a Family Directory are intended to provide relevant support for these particular features of the disorder. Organisations identified in these entries do not provide support specifically for Klippel-Feil syndrome. Families can use Contact a Family's Freephone Helpline for advice, information and, where possible, links to other families. Contact a Family's web-based linking service Making Contact.org can be accessed at http://www.makingcontact.org

Currently Contact a Family is actively involved in facilitating the formation of UK condition specific support groups. If you would like to know more about this, please contact the Rare Disorders Team on 020 7608 8700 or e-mail: specific-cond@cafamily.org.uk We look forward to hearing from you.