Rare Pulmonology News
Advertisement
Disease Profile
Duane syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000
Age of onset
Infancy
ICD-10
H50.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Duane anomaly; Duane retraction syndrome; DRS;
Categories
Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases
Summary
Duane
Symptoms
Symptoms of Duane syndrome may include:[1][2]
- Two eyes that don't line up in the same direction (
strabismus ) - Limited ability to move the eye from side to side
- Retracted eyeball (pulled back into the socket)
- Narrow eye opening (narrow palpebral fissures)
- Lazy eye (amblyopia)
Duane syndrome is present at birth and infants may have only a limited ability to move the affected eye outward and/or inward. Some people with Duane syndrome are at risk to develop lazy eye and have decreased vision in that eye. People with Duane syndrome may also have unusual head movements. Generally, with treatment, eye movement can be corrected.[2][4]
Duane syndrome has 3 types which vary depending on which type of eye movement is most restricted. In Duane syndrome type 1, eye movement outward is limited. This is the most common type of Duane syndrome. In Duane syndrome type 2, eye movement inward is limited. In Duane syndrome type 3, both outward and inward eye movement are limited.[1][2]
In about 30% of cases, Duane syndrome occurs with other abnormalities or as part of a genetic syndrome.[1]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Oculomotor nerve palsy | 0012246 | |
Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
Strabismus |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 |
30%-79% of people have these symptoms | ||
Abnormal vertebral segmentation and fusion | 0005640 | |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ] |
0000490 |
Low posterior hairline |
Low hairline at back of neck
|
0002162 |
Sensorineural hearing impairment | 0000407 | |
5%-29% of people have these symptoms | ||
Abnormal form of the vertebral bodies | 0003312 | |
Abnormal pupil morphology |
Abnormality of the pupil
Pupillary abnormalities
Pupillary abnormality
[ more ] |
0000615 |
Abnormality of cardiovascular system morphology | 0030680 | |
Absent radius |
Missing outer large bone of forearm
|
0003974 |
Amblyopia |
Lazy eye
Wandering eye
[ more ] |
0000646 |
Aniridia |
Absent iris
|
0000526 |
Anorectal anomaly | 0012732 | |
Aplasia/Hypoplasia of the thumb |
Absent/small thumb
Absent/underdeveloped thumb
[ more ] |
0009601 |
Blepharospasm |
Eyelid spasm
Eyelid twitching
Involuntary closure of eyelid
Spontaneous closure of eyelid
[ more ] |
0000643 |
Short fingers or toes
|
0001156 | |
Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
Central heterochromia | 0007818 | |
Chorioretinal coloboma |
Birth defect that causes a hole in the innermost layer at the back of the eye
|
0000567 |
Cleft roof of mouth
|
0000175 | |
Ectopic kidney |
Abnormal kidney location
Displaced kidney
[ more ] |
0000086 |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
External ear malformation | 0008572 | |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] |
0000324 |
Global |
0001263 | |
Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
Hypoplasia of the radius |
Underdeveloped outer large forearm bone
|
0002984 |
Hypoplastic iris stroma | 0007990 | |
Iris coloboma |
Cat eye
|
0000612 |
Irregular hyperpigmentation | 0007400 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Narrow internal auditory canal | 0011386 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Optic disc hypoplasia | 0007766 | |
Patchy hypopigmentation of hair | 0011365 | |
Plagiocephaly |
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ] |
0001357 |
Preauricular skin tag | 0000384 | |
Preaxial hand |
Extra thumb
|
0001177 |
Drooping upper eyelid
|
0000508 | |
0001250 | ||
Short neck |
Decreased length of neck
|
0000470 |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 |
Spina bifida occulta | 0003298 | |
Stenosis of the external auditory canal |
Narrowing of passageway from outer ear to middle ear
|
0000402 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Triphalangeal thumb |
Finger-like thumb
|
0001199 |
Webbed neck |
Neck webbing
|
0000465 |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
Cause
Duane syndrome usually occurs in a family for the first time, without any previous
Duane syndrome associated with MAFB gene variants typically occurs with
Treatment
Specialists involved in the care of someone with Duane syndrome include:
Ophthalmologist - Ophthalmic surgeon
Medical geneticist
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- The American Association for Pediatric Ophthalmology and Strabismus provides a patient information sheet on Duane syndrome. Click on the link to view this information.
- Genetics Home Reference (GHR) contains information on Duane syndrome. This website is maintained by the National Library of Medicine.
- The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Duane syndrome in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Duane syndrome. Click on the link to view a sample search on this topic.
References
- Barry BJ, Whitman MC, Hunter DG, Engle EC. Duane Syndrome. GeneReviews. Updated Aug 29, 2019; https://pubmed.ncbi.nlm.nih.gov/20301369/.
- Kekunnaya R, Negalur M. Duane retraction syndrome: causes, effects and management strategies. Clin Ophthalmol. Oct 30, 2017; 11:1917-1930. https://pubmed.ncbi.nlm.nih.gov/29133973/.
- Gunduz A, Ozsoy E, Ulucan PB. Duane Retraction Syndrome: Clinical Features and a Case Group-Specific Surgical Approach. Semin Ophthalmol. 2019; 34(1):52-58. https://pubmed.ncbi.nlm.nih.gov/30516080/.
- Gaur N, Sharma P. Management of Duane retraction syndrome: A simplified approach. Indian J Ophthalmol. 2019 Jan;67(1):16-22.. Jan 2019; 67(1):16-22. https://pubmed.ncbi.nlm.nih.gov/30574884/.
Rare Pulmonology News