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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Klippel Feil syndrome


Other Names for this Disease
  • Cervical vertebral fusion
  • Cervical vertebral fusion autosomal dominant
  • Cervical vertebral fusion autosomal recessive
  • Congenital cervical vertebral fusion
  • Congenital fused cervical segments
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Symptoms

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What are the signs and symptoms of Klippel Feil syndrome?

Symptoms of Klippel Feil syndrome include short neck, low hairline at the back of the head, and restricted mobility of the upper spine. Other symptoms that occur in some patients include curvature of the spine, spina bifida, kidney abnormalities, rib abnormalities, cleft palate, respiratory problems, and heart malformations. The disorder may also be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers.[1]
Last updated: 7/26/2013

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.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the intervertebral disk 90%
Abnormality of the thumb 90%
Accessory scaphoid 90%
Hypoammonemia 90%
Joint contractures involving the joints of the feet 90%
Mastocytosis 90%
Decreased patellar reflex 50%
Depletion of mitochondrial DNA in muscle tissue 50%
Skin vesicle 50%
Abnormality of the tricuspid valve 7.5%
Aneurysm of an abdominal artery 7.5%
Dysmorphic inferior cerebellar vermis 7.5%
Meconium stained amniotic fluid 7.5%
Poorly ossified vertebrae 7.5%
Posterior pharyngeal cleft 7.5%
Depletion of mitochondrial DNA in muscle tissue 30/50
Skin vesicle 21/50
Bullet-shaped middle phalanx of the 5th toe 5/24
Delayed talus ossification 9/50
Abnormal involuntary eye movements 21/505
Abnormality of the thumb -
Bullet-shaped middle phalanx of the 4th toe -
Depletion of mitochondrial DNA in muscle tissue -
Hydronephrosis -
Hypoammonemia -
Mastocytosis -
Multicystic kidney dysplasia -
Parietal encephalocele -
Sclerosis of the distal phalanx of the hallux -
Skin vesicle -

Last updated: 3/1/2015

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.


References
  1. Klippel-Feil syndrome. National Institute of Neurological Disorders and Stroke (NINDS). 2007; http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm. Accessed 4/8/2008.


Other Names for this Disease
  • Cervical vertebral fusion
  • Cervical vertebral fusion autosomal dominant
  • Cervical vertebral fusion autosomal recessive
  • Congenital cervical vertebral fusion
  • Congenital fused cervical segments
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.