Duane-radial ray syndrome

Duane-Radial Ray Syndrome: A Rare Genetic Disorder

Duane-radial ray syndrome, also known as Okihiro syndrome, is a rare autosomal dominant disorder that affects the eyes and causes abnormalities of bones in the arms and hands. This condition is characterized by a particular problem with eye movement called Duane anomaly (also known as Duane syndrome).

Key Features:

• Eye Movement Abnormalities: Duane anomaly, a form of strabismus with partial horizontal gaze palsy, is a hallmark feature of this condition.
• Radial Ray Defects: Abnormalities of bones in the arms and hands, including radial ray malformations, are also characteristic of Duane-radial ray syndrome.
• Other Features: Some individuals may experience additional symptoms, such as congenital optic nerve hypoplasia or optic disk coloboma, bilateral deafness, and renal anomalies.

Symptoms:

• Unusual eye movements, including limited abduction and restricted adduction
• Abnormalities of bones in the arms and hands, including radial ray malformations
• Congenital optic nerve hypoplasia or optic disk coloboma (in some cases)
• Bilateral deafness (in some cases)
• Renal anomalies (in some cases)

References:

• [1] Duane-radial ray syndrome is a rare autosomal dominant disorder that primarily affects the eyes and causes abnormalities of bones in the arms and hands. (Source: Search Result 2)
• A syndrome of multiple congenital anomalies and is characterized by ocular manifestations, bilateral deafness and radial ray malformation... (Source: Search Result 3)
• 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. (Source: Search Result 4)

Duane-radial ray syndrome (DRRS) is a rare genetic disorder characterized by abnormalities in the eyes, arms, and hands. The signs and symptoms of DRRS can vary from person to person but often include:

• Eye movement problems: People with DRRS may have difficulty moving their eyes horizontally, which can cause double vision or other visual disturbances [3].
• Abnormalities in the arms and hands: This can include malformed or absent thumbs, an extra thumb, or other bone abnormalities in the hands [13].
• Duane anomaly: A specific problem with eye movement that is often associated with DRRS [4].
• Radial ray malformations: Abnormalities in the bones of the arms and hands, which can include radial defects, thenar hypoplasia, or other deformities [9].
• Deafness: Some people with DRRS may experience hearing loss or deafness [10].

In addition to these physical symptoms, some individuals with DRRS may also experience:

• Intellectual disability: In some cases, people with DRRS may have intellectual disabilities or developmental delays [12].
• Central hypoventilation: A condition where the brain has difficulty controlling breathing [12].
• Facial paresis: Weakness or paralysis of the facial muscles [12].

It's essential to note that not everyone with DRRS will experience all of these symptoms, and the severity can vary from person to person.

Diagnostic Tests for Duane-Radial Ray Syndrome

Duane-radial ray syndrome, also known as Okihiro syndrome, is a rare genetic disorder that affects the eyes and causes abnormalities in the arms and hands. Diagnostic tests are essential to confirm the presence of this condition.

• Genetic Testing: Molecular genetics tests can be used to detect mutations in the SALL4 gene, which is associated with Duane-radial ray syndrome [1][2]. Targeted variant analysis, detection of homozygosity, deletion/duplication analysis, and mutation scanning of select exons are some of the genetic testing methods that may be employed [3].
• Imaging Studies: Imaging tests such as X-rays or CT scans can help identify abnormalities in the bones of the arms and hands [4][5].
• Physical Examination: A thorough physical examination by a healthcare provider is essential to diagnose Duane-radial ray syndrome. The provider will look for signs of upper limb anomalies, ocular anomalies, and other characteristic features of the condition [6].

Blood or DNA Testing

In some cases, blood or extracted DNA testing may be required to confirm the diagnosis. This can involve:

• Blood Test: A blood test can be used to detect abnormalities in the SALL4 gene [7].
• DNA Testing: DNA testing can also be used to identify mutations in the SALL4 gene and confirm the diagnosis of Duane-radial ray syndrome [8].

Other Evaluations

After being diagnosed with Duane-radial ray syndrome, further evaluations may be necessary to assess the severity of the condition and develop a treatment plan. These evaluations may include:

• Eye Exams: Regular eye exams are essential to monitor any changes in vision or eye movement [9].
• Physical Therapy: Physical therapy can help improve mobility and strength in affected limbs [10].

References: [1] - Context 2 [2] - Context 8 [3] - Context 2 [4] - Context 5 [5] - Context 6 [6] - Context 8 [7] - Context 3 [8] - Context 9 [9] - Context 10 [10] - Context 5

Duane-radial ray syndrome, also known as Okihiro syndrome or DRRS, is a rare genetic disorder that affects the eyes and causes abnormalities in the arms and hands.

Current Drug Treatment Options

Unfortunately, there is no specific drug treatment for Duane-radial ray syndrome. However, research has shown that thalidomide, a medication that was previously used to treat various conditions, can cause this condition as a side effect [2][6]. Thalidomide is no longer available due to its severe side effects and teratogenic potential [2].

Treatment Focuses on Management of Symptoms

The treatment for Duane-radial ray syndrome focuses on managing the symptoms associated with the disorder. This may include surgery, occupational therapy, limb prosthesis, orthoptic reeducation, physiotherapy, hearing aids, and other supportive measures [7]. The goal is to improve the quality of life for individuals affected by this condition.

No Cure Available

It's essential to note that there is no cure available for Duane-radial ray syndrome. However, with proper management and care, individuals can lead fulfilling lives despite their symptoms [10].

References:

[2] Oct 18, 2022 — Thalidomide, the medication that can cause Duane syndrome (in addition to many other congenital conditions), is no longer available. [6] by KA Donovan · 2018 · Cited by 392 — Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome. [7] by KA Donovan · 2018 · Cited by 392 — We find that thalidomide induces degradation of

Duane-radial ray syndrome (DRRS) is a rare congenital disorder that affects the eyes and bones in the arms and hands. When considering the differential diagnosis for DRRS, several conditions should be taken into account.

• Duane Syndrome: This is an eye movement disorder present at birth, characterized by horizontal eye movement limitation [3]. It can be associated with radial ray malformation, which is a key feature of DRRS.
• Strabismus and Extraocular Limitations: Any condition that demonstrates strabismus or limitations of extraocular movements should be considered in the differential diagnosis for DRRS [5].
• Radial Ray Malformations: Conditions associated with radial ray malformations, such as thenar hypoplasia and/or hypoplasia or aplasia of the radius, should also be considered.
• Other Congenital Anomalies: Rare multiple congenital anomalies syndromes characterized by the association of uni- or bilateral radial defects, uni- or bilateral Duane anomaly, should be taken into account [8].

It's essential to note that the differential diagnosis for DRRS is complex and requires a comprehensive evaluation of the patient's symptoms and medical history. A thorough examination and diagnostic workup are necessary to rule out other conditions and confirm the diagnosis.

References: [3] Duane syndrome (DS) is an eye movement disorder present at birth (congenital) characterized by horizontal eye movement limitation. [5] Jul 11, 2023 — The differential diagnosis for Duane Retraction Syndrome includes any condition that demonstrates strabismus or limitations of extraocular ... [8] A rare multiple congenital anomalies syndrome characterized by the association of uni- or bilateral radial defects, uni- or bilateral Duane anomaly.