Klippel Feil syndrome
- Cervical vertebral fusion
KFS has been reported in people with a very wide variety of other conditions and abnormalities, including:
- scoliosis (curvature of the spine)
- cervical dystonia (painful, involuntary tensing of the neck muscles)
- genitourinary abnormalities (those of the reproductive organs and/or urinary system, including the kidneys)
- Sprengel deformity
- cardiac (heart) defects such as ventricular septal defect
- pulmonary abnormalities (relating to the lungs) and respiratory problems
- hearing deficits
- facial asymmetry, or other abnormalities of the head and face (such as cleft palate or hemifacial microsomia)
- central nervous system abnormalities (including Chiari malformation, spina bifida, or syringomyelia), and/or neurological symptoms
- other skeletal abnormalities (including those of the ribs, limbs and/or fingers)
- situs inversus
- short stature
- synkinesia (where movement in one hand involuntarily mimics the deliberate movement of the other hand)
- Wildervank syndrome
- Duane syndrome or other eye (ocular) abnormalities
The Human Phenotype Ontology provides the following list of signs and symptoms for Klippel Feil syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Dr Dino Samartzis and Francis Shen. Isolated Klippel-Feil syndrome. Orphanet. June, 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2345.
- Klippel-Feil syndrome. Genetics Home Reference. June, 2015; http://ghr.nlm.nih.gov/condition/klippel-feil-syndrome.
- Klippel-Feil Syndrome Information Page. NINDS. September 16, 2011; http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm.
- Chacón-Camacho O, Camarillo-Blancarte L, Pelaez-González H, Mendiola J, Zenteno JC. Klippel-Feil syndrome associated with situs inversus: description of a new case and exclusion of GDF1, GDF3 and GDF6 as causal genes. Eur J Med Genet. June, 2012; 55(6-7):414-417.
- Narang M, Goyal JP. Uncommon manifestations of Klippel Feil syndrome. Indian Pediatr. Match, 2006; 43(3):265-266.
- Klippel-Feil Syndrome. Children's Hospital of Philadelphia. 2015; http://www.chop.edu/conditions-diseases/klippel-feil-syndrome#.VgrDLOxViko.
- Brokinkel B., et. al. Surgical treatment in a patient with Klippel-Feil syndrome and anterior cervical meningomyelocele: a case report and review of literature. Eur Spine J. May, 2013; 22 Suppl 3:S517-520.
- Thomas R Lewis. Klippel-Feil Syndrome. Medscape Reference. January 26, 2015; http://emedicine.medscape.com/article/1264848-overview#showall.
- Klippel-Feil Syndrome. NORD. 2011; http://rarediseases.org/rare-diseases/klippel-feil-syndrome/.