National Organization for Rare Disorders, Inc.
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.
- Klippel-Feil Syndrome, Type I
- Klippel-Feil Syndrome, Type II
- Klippel-Feil Syndrome, Type III
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.
NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
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MUMS National Parent-to-Parent Network
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Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Klippel Feil Support
2901 Cutters Grove Ave.
Anoka, MN 55303
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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