Clinical duane retraction syndrome. Medical search. Frequent questions

Retraction of the eyeball into the socket on adduction, with associated narrowing of the palpebral fissure (eye closing). (wikipedia.org)
The clinician must be persistent in examining abduction and adduction, and in looking for any associated palpebral fissure changes or head postures, when attempting to determine whether what often presents as a common childhood squint (note-"squint" is a British term for two eyes not looking in the same direction) is in fact Duane syndrome. (wikipedia.org)
It is characterized by co-contraction of horizontal recti upon attempted adduction, causing globe retraction along with variable amounts of upshoots or downshoots. (medscape.com)
It may have limited abduction or adduction or both and presents as esotropic, exotropic, or orthotropic Duane. (medscape.com)
People with Duane syndrome have a limited and sometimes absent ability to move their eye outward toward the ear (ie, abduction), and in most cases, they have a limited ability to move the eye inward toward the nose (ie, adduction). (medscape.com)
The essential features are globe retraction upon adduction with narrowing of the lid fissure, and some limitation of abduction. (arizona.edu)
[ 7 ] Type A corresponded to limited abduction and less limited adduction (as described originally by Duane). (medscape.com)
A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. (lookformedical.com)
Duane syndrome (DS) is typically characterized by abduction and/or adduction deficiency accompanied by eyelid and ocular motility disturbances. (oftalmoloji.org)
1,2 This syndrome is characterized by deficient abduction and/or adduction from birth, accompanied by globe retraction on attempted adduction, narrowing of the palpebral fissure, and exaggerated elevation/depression on adduction. (oftalmoloji.org)

The phenotype is mainly characterized by neurodevelopmental delay, heart defects, facial features and Type 1 Duane anomaly. (biomedcentral.com)
High resolution array-CGH analysis identified a 4.2 Mb de novo interstitial duplication of the 8q12.1-q12.3 chromosome region in a boy with developmental delay, dysmorphic features, type 3 Duane anomaly. (biomedcentral.com)
The presence of Duane anomaly in four out of five described patients with a 8q12 duplication definitely rules against the possibility of its being a chance finding unrelated to the imbalance and points toward a pathogenic role. (biomedcentral.com)
Type 1 Duane anomaly has been reported in three out of the four described cases, the exception being the child with the smaller duplication. (biomedcentral.com)
Here we report on a further child who carries a de novo 4.2 Mb duplication of the region 8q12.1-q12.3 presenting with developmental delay, dysmorphic features, and type 3 Duane anomaly in order to refine the clinical presentation of the 8q12 microduplication syndrome and to contribute to genotype-phenotype correlation. (biomedcentral.com)
Drrs Is also known as dr syndrome, acrorenoocular syndrome, duane anomaly with radial ray abnormalities and deafness, okihiro syndrome. (mendelian.co)
Wildervanck syndrome (also known as cervico-oculo-acoustic dysplasia) is a very rare disease, characterized by the typical triad of cervical vertebral fusion or Klippel-Feil anomaly, Duane syndrome (paresis of the sixth cranial nerve), and hearing loss. (bvsalud.org)

The characteristic features of the syndrome are: Limitation of abduction (outward movement) of the affected eye. (wikipedia.org)
Fissure changes, and the other associated characteristics of Duane's such as up or down shoots and globe retraction, are also vital when deciding whether any abduction limitation is the result of Duane's and not a consequence of VI or abducens cranial nerve palsy. (wikipedia.org)
The choice of surgical procedure in esotropic-DRS depends upon several factors that include: the amount of esotropia in the primary position, the presence and severity of palpebral fissure narrowing, globe retraction, presence of medial rectus muscle (MR) contracture, the likelihood of improving abduction, age of the patient, and the presence of binocularity and stereopsis. (bvsalud.org)
Effect of lateral rectus muscle resection on abduction in Duane retraction syndrome type 1. (nih.gov)

While usually isolated to the eye abnormalities, Duane syndrome can be associated with other problems including cervical spine abnormalities Klippel-Feil syndrome, Goldenhar syndrome, heterochromia, and congenital deafness. (wikipedia.org)
It is also seen as part of other syndromes such as Goldenhar ( 164210 ), and Wildervanck ( 314600 ). (arizona.edu)
We report the modified Nishida's procedure combined with medial rectus muscle recession for the treatment of esotropia in unilateral Duane syndrome associated with Goldenhar syndrome. (bvsalud.org)

Although more cases are needed to delineate the full-blown phenotype of 8q12 duplication syndrome, published data and present observations suggest that it results in a clinically recognizable phenotype. (biomedcentral.com)
Duane retraction syndrome is a clinically and genetically heterogeneous condition with a highly variable phenotype. (arizona.edu)
The purposes of this study were to investigate the morphological characteristics of the oculomotor nerve (CN III), the abducens nerve (CN VI), and the extraocular muscles in patients with clinically diagnosed Duane retraction syndrome (DRS) using MRI. (qxmd.com)

There are many surgical procedures in the management of upper eyelid retraction, and in general, they tend to weaken or lengthen the eyelid retractors [5]. (symptoma.com)
This syndrome was initially reported in a 15-year-old girl as unilateral ptosis associated with the upper eyelid contraction on the same side. (capsulehealth.one)

Features common to both disorders include Duane retraction syndrome with variable gaze palsies, sensorineural deafness associated with inner ear abnormalities, and delayed motor development. (nih.gov)

The combination of the 3 findings was earlier referred to as 'acro-renal-ocular syndrome. (mendelian.co)
The Acro-Renal-Ocular Syndrome (AROS) is one of the phenotypes associated with mutations in SALL4. (medicalalgorithms.com)

Often, when the eye moves toward the nose, the eyeball also pulls into the socket (ie, retraction), and the eye opening narrows. (medscape.com)
There's no cure for Duane syndrome, but surgery can be used to try to improve or eliminate issues with head turns, reduce or completely remove considerable misalignment of the eyes, reduce severe retraction of the eyeball, and improve the tendency of the eye to deviate upward or downward with particular eye movements. (jacanswers.com)

There are two known genetic associations with Duane Syndrome. (wikipedia.org)
Duane retraction syndrome (DRS) is a highly heterogeneous eye-movement disorder that in a quarter to half of cases is associated with additional congenital defects and/or genetic syndromes [ 5 ]. (biomedcentral.com)
Although the exact etiology and risk factors associated with Wyburn-Mason syndrome are unknown, studies have suggested a role for genetic factors in the pathogenesis of retinal AVMs. (medscape.com)
Athabascan Brainstem Dysgenesis Syndrome (ABDS) is a very rare genetic syndrome affecting the brainstem of the central nervous system that consists of congenital horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and other variable features that can include facial paresis. (eyewiki.org)
Dravet syndrome is a rare, genetic epileptic encephalopathy that gives rise to seizures that don't respond well to seizure medications. (jacanswers.com)
What is the genetic basis of down syndrome? (jacanswers.com)
Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. (jacanswers.com)
This extra genetic material causes the developmental changes and physical features of Down syndrome. (jacanswers.com)
Knowledge gaps were present in heritability of certain conditions, genetic testing strategies, and referral to clinical trials. (stanford.edu)
Objective: To analyze the clinical phenotype and screen the genetic mutations of hereditary deafness in three deaf families to clarify their molecular biology etiology. (bvsalud.org)
Based on clinical manifestations and genetic test results, proband 1 was diagnosed with multiple lentigines Noonan syndrome, and probands 2 and 3 were diagnosed with Noonan syndrome. (bvsalud.org)
CONCLUSION@#Genetic testing has a great clinical significance for the prevention and reduction of congenital hearing loss, but the scope needs to be updated and redefined by removing mutation sites with a very low rate, adding new significant sites, and improvement of the technical strategies. (bvsalud.org)

In Duane syndrome, the sixth cranial nerve that controls the lateral rectus muscle (the muscle that rotates the eye out toward the ear) does not develop properly. (medscape.com)
At one point the syndrome was considered to be a myopathic disorder based on histologic changes in the lateral rectus but current thought based on MRI and neurohistologic studies favors a neuropathic etiology. (arizona.edu)
In the presence of MR contracture, MR recession is performed either alone (unilaterally or bilaterally) or in conjunction with Y splitting plus recession of the lateral rectus muscle (LR) for reducing globe retraction. (bvsalud.org)
Duane retraction syndrome (DRS) is known to relate to the absence of the abducens nucleus, with abnormal innervation of the lateral rectus (LR) muscle by branchesof the oculomotor nerve (CN III). (qxmd.com)

PURPOSE: To evaluate the effect of half tendon vertical rectus muscle transposition (HVRT) combined with medial rectus muscle recession (MRrec) in complete sixth nerve palsy (CSNP) and esotropic Duane Retraction Syndrome (eDRS). (bvsalud.org)

The results show that different types of DRS are associated with different epidemiological and clinical characteristics. (bvsalud.org)
A so-called "Down syndrome cat" typically manifests some distinctive characteristics, including: Broad noses. (jacanswers.com)

This is a heterogeneous group of syndromes resulting from aberrant wiring of motor nerves in the head muscles [ 6 , 26 ], and not from malformations of the eye itself. (biomedcentral.com)

In the clinical setting, the principal difficulties in differential diagnosis arise as a consequence of the very early age at which patients with this condition first present. (wikipedia.org)
The diagnosis of this disease is usually clinical. (medscape.com)
Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children: An International Perspective. (nih.gov)
Congenital central hypoventilation syndrome: diagnosis and management. (nih.gov)

Duane syndrome is a congenital rare type of strabismus most commonly characterized by the inability of the eye to move outward. (wikipedia.org)
Duane syndrome (DS) is a special type of strabismus that has been recently classified among the congenital cranial dysinnervation disorders (CCDDs) and is encountered in 1-5% of patients with strabismus. (oftalmoloji.org)

who reported on the autopsy findings of two patients with Duane's syndrome. (wikipedia.org)
This view is supported by the earlier work of Hotchkiss et al [5] who reported on the autopsy findings of two patients with Duanes syndrome. (bionity.com)
PURPOSE: To evaluate the clinical findings of different types of Duane retraction syndrome (DRS). STUDY DESIGN: Retrospective. (bvsalud.org)
Matsuo T, Yanai H, Sugiu K, Tominaga S, Kimata Y. Orbital exenteration after transarterial embolization in a patient with Wyburn-Mason syndrome: pathological findings. (medscape.com)

The syndrome was first described by ophthalmologists Jakob Stilling (1887) and Siegmund Türk (1896), and subsequently named after Alexander Duane, who discussed the disorder in more detail in 1905. (wikipedia.org)

Individuals having Duane Retraction Syndrome 2 (DURS2) ( 604356 ) are often found in autosomal dominant pedigrees also. (arizona.edu)

The child was referred to our Clinical Genetics Service for dysmorphic features and developmental delay. (biomedcentral.com)

Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish. (nih.gov)
Duane-radial ray syndrome, also known as Okihiro syndrome, is an autosomal dominant disorder characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies. (mendelian.co)
Other less common features include sensorineural deafness and gastrointestinal anomalies, such as imperforate anus.The Holt-Oram syndrome ( OMIM ), caused by mutation in the TBX5 gene ( OMIM ) on chromosome 12q24, shows similar anomalies of the upper limb, but can be differentiated from Duane-radial ray syndrome by the absence of ocular and renal anomalies and the presence of severe congenital heart defects ( Kohlhase, 2003 ). (mendelian.co)
In addition, we assessed the association between ocular motility, horizontal rectus muscle volumes, and CN III/VI in patients with Duane retraction syndrome (DRS). (qxmd.com)

Many patients with Duane syndrome develop a habit of turning their face to maintain binocular vision and thus compensate for improper turning of the eyes. (medscape.com)
Few patients with the syndrome complain of diplopia when their eyes are misaligned. (bionity.com)
Duane Retraction Syndrome (DURS3) ( 617041 ) patients with mutations in MAFB may have sensorineural hearing loss. (arizona.edu)
Subconjunctival injections of botulinum toxin and several surgical procedures have been used to reduce the degree of eyelid retraction in patients with thyroid eye disease. (symptoma.com)
Analysis of syndromic DNA using an oligonucleotide microarray (Agilent 4 x 180K) demonstrated the characteristic deletion in 15q11.2-q13 (chromosome 15) found in patients with Prader-Willi syndrome. (enzolifesciences.com)
Early Computed Tomography Coronary Angiography and Preventative Treatment in Patients with Suspected Acute Coronary Syndrome A secondary analysis of the RAPID-CTCA trial. (amedeo.com)
To resolve the controversy over the effectiveness of optic nerve decompression for NAION, the National Eye Institute sponsored the Ischemic Optic Neuropathy Decompression Trial, a multicenter, randomized controlled clinical trial of optic nerve decompression surgery for patients with NAION. (aetna.com)

El síndrome de Wildervanck (cérvico-óculo-acústico) es una patología muy rara, caracterizada por la tríada clásica de fusión de vértebras cervicales o anomalía de Klippel-Feil, síndrome de Duane (paresia del VI par craneal) e hipoacusia. (bvsalud.org)

Gene content analysis of the duplicated region and review of the literature suggest that gain-of-dosage of the CHD7 gene may be a good candidate for the main clinical features of the syndrome. (biomedcentral.com)

Spontaneous involution of retinal and intracranial arteriovenous malformation in Bonnet-Dechaume-Blanc syndrome. (medscape.com)
Schmidt D. [Congenital retinocephalic facial vascular malformation syndrome. (medscape.com)
Dr. State's lab has played a leading role in demonstrating the contribution of rare and de novo variation to autism spectrum disorders (ASD), Tourette disorder (TD), and brain malformation syndromes. (ucsf.edu)
Ponce FA, Han PP, Spetzler RF, Canady A, Feiz-Erfan I. Associated arteriovenous malformation of the orbit and brain: a case of Wyburn-Mason syndrome without retinal involvement. (medscape.com)

however, this was ultimately found to be a distinct syndrome with characteristic features such as sensorineural deafness, horizontal gaze palsy and central hypoventilation not seen in typical Möbius syndrome. (eyewiki.org)

Retraction of a clot resulting from contraction of PLATELET pseudopods attached to FIBRIN strands. (lookformedical.com)
Clot retraction is used as a measure of platelet function. (lookformedical.com)

Duane retraction syndrome (DRS) is a complex congenital cranial dysinnervation disorder. (bvsalud.org)

Wyburn-Mason syndrome is usually unilateral and often asymptomatic. (medscape.com)

Through clinical and basic research, they have made valuable contributions to both the understanding and treatments of ophthalmic disorders. (cuanschutz.edu)

Chung M, Stout JT, Borchert MS. Clinical diversity of hereditary Duane's retraction syndrome . (arizona.edu)

Duane syndrome is a rare, congenital disorder of eye movement. (medscape.com)
Duane syndrome (DS) is a rare, congenital disorder of eye movement. (medscape.com)
Wyburn-Mason syndrome is a congenital disorder. (medscape.com)

Duane syndrome 1 described here follows an autosomal dominant pattern. (arizona.edu)

Wyburn-Mason syndrome is a congenital, nonhereditary, sporadic disorder without sexual or racial predilection. (medscape.com)
Wyburn-Mason syndrome is considered to be a congenital, nonhereditary, sporadic disorder and without sexual or racial predilection. (medscape.com)

Wyburn-Mason syndrome (WMS), also known as Bonnet-Dechaume-Blanc syndrome or retinoencephalofacial angiomatosis, is a rare nonhereditary congenital phakomatosis characterized by arteriovenous malformations (AVMs) of the retina, brain, and, in some cases, facial skin. (medscape.com)

Duane syndrome (DS), or Duane retraction (or co-contraction) syndrome (DRS), is a congenital restrictive strabismus that can occur either as an isolated entity or in conjunction with other congenital anomalies. (medscape.com)
This is a congenital and non-progressive strabismus syndrome. (arizona.edu)

Microduplication of 8q12, encompassing the CHD7 gene, which is mutated or deleted in CHARGE syndrome, has recently been identified to result in a novel multiple congenital anomalies syndrome. (biomedcentral.com)
Duane-radial ray syndrome (deletion/duplication analysis on SALL4 gene). (mendelian.co)
Duane retraction syndrome (sequence analysis of SALL4 gene). (mendelian.co)
This study enriches the clinical phenotype and mutation spectrum of the PTPN11 gene in the Chinese population. (bvsalud.org)

Two related, but somewhat distinctive, phenotypes have been described in different populations: the Athabaskan brainstem dysgenesis syndrome (ABDS) in Native Americans, and Bosley-Salih-Alorainy syndrome (BSAS) in individuals from the Middle East, including Turkey and Saudi Arabia. (nih.gov)

Features of Duane syndrome are also part of the Duane-Radial Ray Syndrome ( 607323 ). (arizona.edu)

This can happen due to any bleeding at the surgical site, which leads to hematoma formation and compression of the nerve roots causing the presentation of cauda equina syndrome. (jacanswers.com)

Report of the National Eye Institute/Industry Workshop on Clinical Trials in Dry Eyes. (symptoma.com)
Publication bias has an impact on the interpretation of clinical trials and meta-analyses. (lookformedical.com)
Acthar® Gel (repository corticotropin injection) is FDA-approved for treatment of acute episodes or exacerbation of PsA, but no clinical trials have investigated it for those uses. (clinmedjournals.org)

Duane syndrome (DS) is a rare, congenital eye movement disorder most commonly characterized by the inability of the eye to turn out. (bionity.com)
Cortnum SO, Sorensen P, Andresen J. Bilateral Wyburn-Mason syndrome presenting as acute subarachnoid haemorrhage - a very rare congenital neurocutaneous [corrected] disorder. (medscape.com)

EMG studies have documented simultaneous activation of the two muscles which likely accounts for at least some of the globe retraction. (arizona.edu)

Duane syndrome is most probably a miswiring of the eye muscles, causing some eye muscles to contract when they shouldn't and other eye muscles not to contract when they should. (wikipedia.org)
Thus, co-contraction of the muscles takes place, limiting the amount of movement achievable and also resulting in retraction of the eye into the socket. (wikipedia.org)
Duane syndrome (DS) is a miswiring of the eye muscles that causes some eye muscles to contract when they should not and other eye muscles not to contract when they should. (medscape.com)

Most individuals with Duane syndrome are diagnosed by age 10 years. (medscape.com)

Do fetal alcohol syndrome have tremor? (jacanswers.com)
How much alcohol is necessary to cause fetal alcohol syndrome? (jacanswers.com)

The present case represents a further patient with an interstitial duplication of chromosome 8q12 and several shared clinical features. (biomedcentral.com)

In this case report, we describe a patient who met the cardinal triad and also presented additional clinical data that have not been previously reported, which contribute to broadening the disease phenotype. (bvsalud.org)

In the absence of other anomalies, it is called isolated Duane syndrome. (arizona.edu)

Anatomy1

Diseases5

Chemicals and Drugs1

Analytical, Diagnostic and Therapeutic Techniques and Equipment1

Phenomena and Processes1

Information Science1

Adduction10

Anomaly7

Abduction4

Goldenhar3

Clinically3

Upper eyelid2

Abnormalities1

Acro-renal-ocular syndrome2

Eyeball2

Genetic12

Lateral4

Esotropic1

Characteristics2

Heterogeneous1

Diagnosis4

Type of strabismus2

Findings4

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6043561

Genetics1

Ocular4

Patients7

Wildervanck1

Features of the syndrome1

Malformation4

Characteristic features1

Platelet2

Dysinnervation1

Unilateral1

Disorders1

Hereditary1

Congenital disorder3

Autosomal dominant1

Sporadic2

Facial1

Strabismus2

Gene4

Brainstem1

Radial1

Presentation1

Trials3

Disorder2

Globe1

Muscles3

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Fetal2

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Absence1