Klippel-Feil Syndrome / Disease

Diseases & Conditions

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Klippel-Feil Syndrome

Synonyms of Klippel-Feil Syndrome

Cervical Vertebral Fusion
Congenital Cervical Synostosis
KFS

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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Organizations related to Klippel-Feil Syndrome

Klippel Feil Support
2901 Cutters Grove Ave.
Anoka MN 55303
Phone #: N/A
800 #: N/A
e-mail: blackwhitecat95@aol.com
Home page: http://www.klippelfeilsupport.com
Let Them Hear Foundation
1900 University Ave #101
East Palo Alto CA 94303
Phone #: 650-462-3143
800 #: 877-735-2929
e-mail: info@letthemhear.org
Home page: http://www.letthemhear.org
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda MD 20892-3675
Phone #: 301-495-4484
800 #: 877-226-4267
e-mail: NIAMSinfo@mail.nih.gov
Home page: http://www.niams.nih.gov/Health_Info

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