Klippel-Feil syndrome

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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 disorder, initially reported in 1912 by Maurice Klippel and Andre Feil from France,^[1] characterized by the congenital fusion of any 2 of the 7 cervical vertebrae.

Contents 1 Causes 2 Presentation 3 Classification 4 Treatment 5 Prognosis 6 Notable cases 7 References 8 External links

[edit] Causes

It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development.

[edit] Presentation

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 (uncurvature 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.^[2]

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.^[3]

[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.

[edit] Prognosis

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] Notable cases

The 18th Dynasty Egyptian pharaoh Tutankhamun is believed by some to have suffered from Klippel-Feil syndrome,^[4] though others dispute this claim.^[5] A more recent case is the English cricketer Gladstone Small.^[6]

[edit] References

1. ^ Klippel M, Feil A. Un cas d'absence des vertebres cervicales. Avec cage thoracique remontant jusqu'a la base du crane (cage thoracique cervicale). Nouv Iconog Salpetriere. 1912;25:223-250.
2. ^ Feil A. L'absence et la diminuaton des vertebres cervicales (etude cliniqueet pathogenique); le syndrome dereduction numerique cervicales. Theses de Paris; 1919.
3. ^ Samartzis DD, Herman J, Lubicky JP, Shen FH. Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms. Spine. Oct 1 2006;31(21):E798-804.
4. ^ Tutankhamun shows his face 80 years after tomb is opened. Retrieved on 2007-07-12.
5. ^ Boyer RS, Rodin EA, Grey TC, Connolly RC (2003). "The skull and cervical spine radiographs of Tutankhamen: a critical appraisal". AJNR. American journal of neuroradiology 24 (6): 1142–7. PMID 12812942. 
6. ^ Hughes, Simon (1997-09-05). Small gains from wealth of partners. Cricinfo. Retrieved on 2007-12-13.

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

v • d • e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65-Q79, 754-756) Congenital limb deformities Upper limbs Cleidocranial dysostosis - Madelung's deformity - Sprengel's deformity - Wallis Zieff Goldblatt syndrome Lower limbs hip: Dislocation of hip/Hip dysplasia - Upington disease knee: Genu valgum - Genu varum feet: Club foot - Flat feet - Pes cavus Upper and/or lower limbs dactyly: Polydactyly/Syndactyly (Webbed toes) - Arachnodactyly - Cenani Lenz syndactylism reduction deficits: Acheiropodia - Amelia - Ectrodactyly - Phocomelia multiple joints: Arthrogryposis - Larsen syndrome Craniofacial abnormalities Macrocephaly - Platybasia Craniosynostosis: Scaphocephaly - Oxycephaly - Trigonocephaly Craniofacial dysostosis: Crouzon syndrome - Hypertelorism - Hallermann-Streiff syndrome - Treacher Collins syndrome Craniodiaphyseal dysplasia Dolichocephaly - Greig cephalopolysyndactyly syndrome - Plagiocephaly Other axial skeleton spine: spinal curvature (Scoliosis) - Klippel-Feil syndrome - Spondylolisthesis ribs: Cervical rib - Bifid rib sternum: Pectus excavatum - Pectus carinatum Osteochondrodysplasia development of cartilage, tubular bones and spine: Achondrogenesis/Hypochondrogenesis - Boomerang dysplasia - Thanatophoric dysplasia - Short rib-polydactyly syndrome - Chondrodysplasia punctata (Rhizomelic chondrodysplasia punctata, Conradi-Hünermann syndrome) - Achondroplasia (Hypochondroplasia) - Osteosclerosis (Raine syndrome) - Ellis-van Creveld syndrome - Otospondylomegaepiphyseal dysplasia - Spondyloepiphyseal dysplasia congenita collagen diseases: Osteogenesis imperfecta - Ehlers-Danlos syndrome other: McCune-Albright syndrome - Osteopetrosis - Metaphyseal dysplasia - Recessive multiple epiphyseal dysplasia - Hereditary multiple exostoses - Osteopoikilosis - Chondrodystrophy - Osteodystrophy - Atelosteogenesis, type II - Diastrophic dysplasia - Camurati-Engelmann disease Other abdominal wall (Congenital diaphragmatic hernia, Omphalocele, Gastroschisis, Prune belly syndrome) See also non-congenital conditions (M, 710-739)