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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
  • Klippel Feil syndrome autosomal dominant
  • Klippel Feil syndrome autosomal recessive
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the 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)
Abnormal vertebral segmentation and fusion 90%
Cervical vertebral fusion (C2/C3) 90%
Facial asymmetry 90%
Limited neck range of motion 90%
Low posterior hairline 90%
Short neck 90%
Vertebral segmentation defect 90%
Webbed neck 90%
Abnormality of the ribs 50%
Abnormality of the shoulder 50%
Congenital muscular torticollis 50%
Hearing impairment 50%
Scoliosis 50%
Sprengel anomaly 50%
Abnormality of limb bone morphology 7.5%
Abnormality of the cranial nerves 7.5%
Abnormality of the sacrum 7.5%
Cleft palate 7.5%
Cognitive impairment 7.5%
Ectopic anus 7.5%
Hemiplegia/hemiparesis 7.5%
Posterior fossa cyst 7.5%
Renal hypoplasia/aplasia 7.5%
Spina bifida 7.5%
Urogenital fistula 7.5%
Ventricular septal defect 7.5%
Scoliosis 30/50
Sprengel anomaly 21/50
Sensorineural hearing impairment 8/24
Mixed hearing impairment 5/24
Bimanual synkinesia 9/50
Unilateral renal agenesis 7/45
Malformation of the heart and great vessels 21/505
Abnormality of the pinna -
Autosomal dominant inheritance -
Autosomal recessive inheritance -
Cleft palate -
Cleft upper lip -
Conductive hearing impairment -
Fused cervical vertebrae -
Heterogeneous -
Limited neck range of motion -
Low posterior hairline -
Scoliosis -
Sensorineural hearing impairment -
Short neck -
Sprengel anomaly -
Variable expressivity -
Ventricular septal defect -

Last updated: 9/2/2014

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
  • Klippel Feil syndrome autosomal dominant
  • Klippel Feil syndrome autosomal recessive
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.