Klippel-Feil syndrome
Classification and external resources
ICD-10	Q76.1
ICD-9	756.16
OMIM	118100 214300 148900
DiseasesDB	7197
eMedicine	orthoped/408
MeSH	D007714

Klippel–Feil syndrome is a rare disease, initially reported in 1912 by Maurice Klippel and André Feil from France,^[1] characterized by the congenital fusion of any 2 of the 7 cervical vertebrae.^[2]:578 In fact, "Klippel-Feil syndrome" occurs in a heterogeneous group of patients unified only by the presence of a congenital defect in the formation or segmentation of the cervical spine.

Contents 1 Signs and symptoms 2 Classification 3 Treatment 4 Prognosis 5 Genetics 6 Notable cases 7 References 8 External links

[edit] Signs and symptoms

Numerous associated abnormalities of other organ systems may be present. This heterogeneity requires comprehensive evaluation of all patients and treatment regimes that can vary from modification of activities to extensive spinal surgeries. Furthermore, it is unclear whether Klippel-Feil syndrome is a discrete entity, or if it is one point on a spectrum of congenital spinal deformities.

The most common signs of the disorder are a short neck, low hairline at the back of the head, and restricted mobility of the upper spine.

Associated abnormalities may include:

• scoliosis (side-to-side curvature of the spine),
• spina bifida,
• anomalies of the kidneys and the ribs,
• cleft palate,
• very few respiratory problems,
• and heart malformations.

The disorder also may be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers.

[edit] Classification

A classification scheme for Klippel-Feil syndrome was proposed in 1919 by Andre Feil, which accounted for cervical, thoracic, and lumbar spine malformations.^[3]

However, recently, Dino Samartzis and colleagues in 2006 proposed 3 classification-types that specifically addressed the cervical spine anomalies and their associated cervical spine-related symptoms, with additional elaboration on various time-dependent factors regarding this syndrome.^[4]

[edit] Treatment

Treatment for Klippel-Feil syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis. Physical therapy may also be useful. In fact, the KFS heterogeneity requires comprehensive treatment regimes that can vary from modification of activities to extensive spinal surgeries.

[edit] Prognosis

The heterogeneity of KFS also has made delineation of diagnostic and prognostic classes difficult and has complicated elucidation of the genetic etiology of the syndrome.

The prognosis for most individuals with KFS is good if the disorder is treated early and appropriately. Activities that can injure the neck should be avoided. Anomalies associated with the syndrome can be fatal if not treated, or if found too late to be treatable.

[edit] Genetics

• Pedigree analysis has identified a human genetic locus for the disease.
• Mouse models suggest members of the PAX gene family and Notch signaling pathway as possible etiologic candidates.
• Only by identifying the link between the genetic etiology and the phenotypic pathoanatomy of Klippel-Feil syndrome will we be able to rationalize the heterogeneity of the syndrome.

• Autosomal dominant inheritance is especially associated with C2-C3 fusion.
• Autosomal recessive inheritance is especially associated with C5-C6 fusion.
• Another autosomal dominant form (mapped on locus 8q22.2) known as Klippel-Feil syndrome with laryngeal malformation has been identified. It is also known as Segmentation syndrome 1. ^[5][6]

[edit] Notable cases

The 18th Dynasty Egyptian pharaoh Tutankhamun is believed by some to have suffered from Klippel-Feil syndrome,^[7] though others dispute this claim.^[8] A more recent case is the English cricketer Gladstone Small.^[9]

In 2009, archaeologists excavating at a Neolithic site in northern Vietnam discovered the remains of a young man with Klippel-Feil syndrome, who had apparently been supported by his subsistence-level community for at least a decade before his death.^[10]

[edit] References

This article incorporates information in the public domain prepared by the National Institute of Neurological Disorders and Stroke.

[edit] External links

• Klippel–Feil syndrome at the Open Directory Project
• Klippel-Feil syndrome in the Contact a Family Directory
• Klippel-Feil syndrome support forum

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