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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Duane syndrome


Other Names for this Disease

  • DRS
  • Duane anomaly
  • Duane retraction syndrome
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Symptoms

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What are the signs and symptoms of Duane syndrome?

Duane syndrome (DS) is present at birth and is characterized by limitation of horizontal eye movement (a limited ability to move the eye inward toward the nose (adduction), outward toward the ear (abduction), or in both directions). In addition, during adduction, the eyeball pulls in and the eye opening (palpebral fissure) narrows. In some cases, when the eye attempts to look inward, it moves upward or downward. Duane syndrome has 3 sub-types which vary depending on which type of eye movement is most restricted.[1]

In Duane syndrome type 1, abduction is limited, but adduction is normal or close to normal. The eye opening narrows and the eyeball retracts into the orbit during adduction, and the reverse occurs during abduction. In Duane syndrome type 2, adduction is limited, and abduction is normal or only slightly limited. In Duane syndrome type 3, both adduction and abduction are limited. The eyeball retracts during adduction in types 2 and 3. Each of these three types has been further classified into three subgroups designated A, B, and C to describe the eyes when looking straight.

Duane syndrome is an isolated finding in approximately 70 percent of cases but may be associated with other abnormalities. Major anomalies that may be associated with DS may affect the skeletal system, ears, eyes, nervous system, and/or the kidneys and urinary tract.[1]
Last updated: 3/26/2012

The Human Phenotype Ontology provides the following list of signs and symptoms for Duane 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)
Ophthalmoparesis 90%
Strabismus 90%
Anteverted nares 50%
Blepharophimosis 50%
Deeply set eye 50%
Abnormal form of the vertebral bodies 7.5%
Abnormal localization of kidney 7.5%
Abnormality of the pupil 7.5%
Aplasia/Hypoplasia of the iris 7.5%
Aplasia/Hypoplasia of the radius 7.5%
Aplasia/Hypoplasia of the thumb 7.5%
Brachydactyly syndrome 7.5%
Chorioretinal coloboma 7.5%
Cleft palate 7.5%
Cognitive impairment 7.5%
External ear malformation 7.5%
Hearing impairment 7.5%
Heterochromia iridis 7.5%
Malformation of the heart and great vessels 7.5%
Microcephaly 7.5%
Micrognathia 7.5%
Nystagmus 7.5%
Optic atrophy 7.5%
Ptosis 7.5%
Seizures 7.5%
Short neck 7.5%
Talipes 7.5%
Visual impairment 7.5%
Wide nasal bridge 7.5%
Autosomal dominant inheritance -
Congenital strabismus -
Duane anomaly -
Impaired convergence -
Impaired ocular abduction -
Impaired ocular adduction -
Palpebral fissure narrowing on adduction -

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. Duane syndrome. NORD. February 2, 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/224/viewAbstract. Accessed 3/26/2012.


Other Names for this Disease
  • DRS
  • Duane anomaly
  • Duane retraction syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.