0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z

Klippel-Feil Syndrome

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

View Full Report

NORD is very grateful to Raymond A. Clarke, PhD, Associate Professor, Department of Medicine, University of Western Sydney, Australia, for assistance in the preparation of this report.

Synonyms of Klippel-Feil Syndrome

cervical vertebral fusion
congenital cervical synostosis
isolated Klippel-Feil syndrome
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 skeletal disorder 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). The disorder is present at birth (congenital), but mild cases may go undiagnosed until later during life when symptoms worsen or first become apparent.

In some individuals, KFS can be associated with a variety of additional symptoms and physical abnormalities. These may include abnormal curvature of the spine (scoliosis) and/or vertebral instability, spina bifida occulta, raised scapula (Sprengel's deformity), absent rib(s) and other rib defects including cervical ribs, other skeletal abnormalities including skeletal malformations of the ear, nose, mouth and larynx including hearing impairment and cleft palate, malformations of the head and facial (craniofacial) area; anomalies of the urinary tract and/or kidney including absent or horse-shoe kidney; or structural abnormalities of the heart (congenital heart defects), mirror movements, webbing of the digits and digital hypoplasia. In addition, in some cases, neurological complications may result due to associated spinal cord injury.

KFS may occur as an isolated abnormality or in association with certain syndromes. In many individuals with KFS, the condition appears to occur randomly for unknown reasons (sporadically). In other cases, KFS may be inherited as an autosomal dominant or autosomal recessive trait. Researchers have determined that some cases of KFS are associated with mutations of the GDF6 gene on chromosome 8.

Organizations related to Klippel-Feil Syndrome

Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Phone #: 301-251-4925
- 800 #: 888-205-2311
- e-mail: N/A
- Home page: http://rarediseases.info.nih.gov/GARD/
Klippel Feil Support
- 2901 Cutters Grove Ave.
- #101
- Anoka, MN 55303
- Phone #: N/A
- 800 #: N/A
- e-mail: blackwhitecat95@aol.com
- Home page: http://www.klippelfeilsupport.com
Klippel-Feil Syndrome Alliance
- 1312 Oak Ave., Unit 1
- Evanston, IL 60201
- Phone #: 734-244-4435
- 800 #: N/A
- e-mail: info@KFSalliance.org
- Home page: http://www.KFSalliance.org
Let Them Hear Foundation
- 1900 University Avenue, Suite 101
- East Palo Alto, CA 94303
- Phone #: 650-462-3174
- 800 #: N/A
- e-mail: info@letthemhear.org
- Home page: http://www.letthemhear.org
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
MUMS National Parent-to-Parent Network
- 150 Custer Court
- Green Bay, WI 54301-1243 USA
- Phone #: N/A
- 800 #: N/A
- e-mail: mums@netnet.net
- Home page: http://www.netnet.net/mums/
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
- Information Clearinghouse
- One AMS Circle
- Bethesda, MD 20892-3675 USA
- Phone #: 301-495-4484
- 800 #: 877-226-4267
- e-mail: NIAMSinfo@mail.nih.gov
- Home page: http://www.niams.nih.gov/

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.