Klippel-Feil Syndrome

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Klippel-Feil Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Congenital Cervical Synostosis
  • KFS
  • Cervical Vertebral Fusion

Disorder Subdivisions

  • Klippel-Feil Syndrome, Type I
  • Klippel-Feil Syndrome, Type II
  • Klippel-Feil Syndrome, Type III

General Discussion

Klippel-Feil syndrome (KFS) is a rare condition that is evident at birth (congenital). KFS is primarily characterized by abnormal union or fusion of two or more bones of the spinal column (vertebrae) within the neck (cervical vertebrae). Some affected individuals may also have an abnormally short neck, restricted movement of the head and neck, and a low hairline at the back of the head (posterior hairline).

In some individuals with KFS, the condition may be associated with additional physical abnormalities. These may include abnormal curvature of the spine (scoliosis), rib defects, or other skeletal abnormalities; hearing impairment; certain malformations of the head and facial (craniofacial) area; or structural abnormalities of the heart (congenital heart defects). In addition, in some cases, neurological complications may result due to associated spinal cord injury.

In most individuals with KFS, the condition appears to occur randomly for unknown reasons (sporadically). However, in other cases, KFS may be inherited as an autosomal dominant or autosomal recessive trait.
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Resources

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/Health_Info

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Tel: (650)462-3143
Fax: (650)462-3144
Tel: (877)735-2929
Email: info@letthemhear.org
Internet: http://www.letthemhear.org

Klippel Feil Support
2901 Cutters Grove Ave.
#101
Anoka, MN 55303
Email: blackwhitecat95@aol.com
Internet: http://www.klippelfeilsupport.com

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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