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humeroradial synostosis
ICD-10 Codes
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Description
Humeroradial synostosis is a rare congenital condition characterized by the premature fusion of the radius and humerus bones in the forearm. This abnormality can lead to various symptoms, including:
- Reduced mobility and flexibility in the affected arm
- Limited range of motion in the elbow joint
- Pain or discomfort in the forearm or elbow area
- Muscle weakness or atrophy in the affected arm
In some cases, humeroradial synostosis may be part of a larger syndrome, such as Multiple Synostosis Syndrome (SYNS2) [1], which also involves other skeletal abnormalities.
The condition can be diagnosed through various imaging techniques, including X-rays, CT scans, or MRI. Treatment options for humeroradial synostosis typically focus on relieving symptoms and improving mobility, and may include physical therapy, bracing, or surgical intervention in severe cases [5].
It's worth noting that the exact prevalence of humeroradial synostosis is not well established, but it is considered a rare condition. Further research is needed to fully understand its causes, consequences, and optimal management strategies.
References: [1] DD Farhud (2024) - Multiple Synostosis Syndrome2 (SYNS2) [5] AE Van Heest (1996) - Synostoses of the radius and ulna, carpus, metacarpals, or phalanges
Additional Characteristics
- Reduced mobility and flexibility in the affected arm
- Limited range of motion in the elbow joint
- Pain or discomfort in the forearm or elbow area
- Muscle weakness or atrophy in the affected arm
Signs and Symptoms
Common Signs and Symptoms of Humeroradial Synostosis
Humeroradial synostosis, a rare genetic condition, is characterized by the fusion of the humerus and radius bones in the forearm. This congenital defect leads to significant mobility issues in the elbow joint. Here are some common signs and symptoms associated with this condition:
- Immobilized Elbow Joint: Patients with humeroradial synostosis often have an immobile elbow joint, making it difficult to bend or straighten the arm [1].
- Decreased Muscle Mass in the Upper Arm: The condition leads to decreased muscle mass and strength in the upper arm, further impairing mobility [4].
- Bony Fusion on Radiographs: X-rays typically show bony fusion between the humerus and radius bones [4].
- Proximal Forearm Tenderness: Physical examination may reveal tenderness in the proximal forearm bilaterally [3].
- Stiff Elbow Joints: Both elbow joints are often stiff, with limited range of motion, typically around 85 degrees of flexion and neutral rotation [3].
- Deformity and Angulation: In some cases, patients may present with deformity and angulation in the upper third of the upper limb, without any vascular or neurological deficits [5].
These symptoms can vary depending on the severity of the condition and individual factors. It's essential to consult a medical professional for an accurate diagnosis and treatment plan.
References: [1] EK Brakohiapa · 2024 [3] EE Mahmoud · 2021 · Cited by 1 [4] Clinically, patients with humeroradial synostosis have an immobile elbow joint with decreased muscle in the upper arm, and bony fusion is seen on radiographic ... [5] On examination, he presented deformity and angulation in the upper third of the upper limb, with no vascular or neurological deficits. Radiographs showed a ...
Additional Symptoms
- Immobilized Elbow Joint
- Decreased Muscle Mass in the Upper Arm
- Bony Fusion on Radiographs
- Proximal Forearm Tenderness
- Stiff Elbow Joints
- Deformity and Angulation
Diagnostic Tests
Diagnostic Tests for Humeroradial Synostosis
Humeroradial synostosis, a rare genetic disorder characterized by the fusion of the humerus and radius bones, can be diagnosed through various diagnostic tests. Here are some of the key diagnostic aids:
- Radiographic Imaging: The presence of a proximal radial ulnar bony connection is a key indicator of humeroradial synostosis (Search Result 6). A 3-dimensional computed tomography scan can further show proximal ulna and radius dysplasia, as well as anterior dislocation of the radius head (Search Result 7).
- Genetic Testing: Genetic tests are available in the US and labs around the world to confirm the diagnosis of humeroradial synostosis (Search Result 1). These tests can identify genetic mutations associated with the disorder.
- Clinical Evaluation: A thorough clinical evaluation, including a physical examination and medical history, is essential for diagnosing humeroradial synostosis (Search Result 4).
Diagnostic Aids
The following diagnostic aids are available to aid in the diagnosis of humeroradial synostosis:
- Eurofins Biomnis Test Guide: This test guide provides information on genetic testing and other diagnostic aids for humeroradial synostosis (Search Results 5 and 9).
- Genetics Test Guide: This guide provides detailed information on genetic testing for humeroradial synostosis, including available tests and labs (Search Result 1).
References
[4] Nema S. (2012). Humeroradial synostosis: A unique case report. [Cited by 10]
[6] Jia Y. (2020). Bilateral humeroradial synostosis with proximal ulna and radius dysplasia. [Cited by 15]
[7] Mahmoud EE. (2021). Isolated sporadic class II bilateral HRS presenting with bilateral proximal radius fractures. [Cited by 1]
Note: The citations provided are based on the search results and may not be an exhaustive list of references for humeroradial synostosis.
Additional Diagnostic Tests
- Clinical Evaluation
- Genetic Testing
- Radiographic Imaging
- Eurofins Biomnis Test Guide
- Genetics Test Guide
Treatment
Adjuvant Therapies for Humeroradial Synostosis
According to available information, adjuvant therapies such as non-steroidal anti-inflammatory drugs (NSAIDs) and low-dose radiation have been described in the prevention of complications associated with humeroradial synostosis [1]. However, formal therapy is usually not necessary for this condition [3].
Conservative Treatment
Treatment for Humeroradial Synostosis (HRS) can be either conservative or surgical. Conservative treatment may involve the use of NSAIDs and other medications to manage symptoms and prevent complications [5]. In some cases, surgery may be offered to older children to increase the degrees of freedom at the elbow joint [5].
Surgical Treatment
The aim of surgical treatment for HRS is to remove the bony bridge and restore complete range of movement (ROM), thus preventing recurrence [8]. Surgical techniques have evolved over time, with some studies reporting on new methods such as regional vascularized pedicle adipofascial flaps to prevent re-synostosis and radial osteotomy to correct forearm deformities [10].
Key Points
- Adjuvant therapies like NSAIDs and low-dose radiation may be used in prevention of complications.
- Formal therapy is usually not necessary.
- Conservative treatment options exist, including medication management.
- Surgical treatment aims to remove the bony bridge and restore ROM.
References:
[1] Osterman, A. (2017). Most of the benefits of adjuvant therapies... [2] [3] Jupiter, J. B. (1998). Formal therapy is usually not necessary... [3] [5] Brakohiapa, E. K. (2024). Treatment for CHRS is either conservative or surgical... [5] [8] Pfanner, S. (Cited by 13). The aim of the surgical treatment is to remove the bony bridge and restore complete range of movement (ROM)... [8] [10] Chen, Y. C. (2023). We report a new surgical technique including a regional vascularized pedicle adipofascial flap... [10]
Recommended Medications
- NSAIDs
- low-dose radiation
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnosis of Humeroradial Synostosis
Humeroradial synostosis, a condition where the humerus and radius bones fuse at the elbow, can be challenging to diagnose due to its rarity. However, several conditions can present with similar symptoms, making differential diagnosis crucial.
- Carpenter Syndrome: This rare genetic disorder is characterized by premature aging, short stature, and various skeletal abnormalities, including fusion of the humerus and radius bones [5].
- Apert Syndrome: Another rare genetic disorder, Apert syndrome involves premature fusion of bones, including the skull, face, and limbs. Humeroradial synostosis may be associated with this condition [5].
- Conjoined Humerus, Radius, and Ulna: A rare congenital anomaly where the humerus, radius, and ulna bones are fused together, potentially causing elbow joint dysfunction [8][9].
Key Diagnostic Features
To differentiate humeroradial synostosis from other conditions, clinicians should look for:
- Fusion of the humerus and radius bones: A characteristic feature of humeroradial synostosis, which can be confirmed through radiographic imaging.
- Elbow joint dysfunction: Patients with humeroradial synostosis often experience loss of elbow motion and functional arm impairment [4].
- Associated congenital syndromes: The presence of other genetic disorders, such as Carpenter or Apert syndrome, may indicate a higher likelihood of humeroradial synostosis.
References
[1] Definition: Autosomal recessive form of humeroradial synostosis (disease).
[2] Three clinical subtypes, which have important diagnostic implications.
[3] Type 4. This type involves an abnormal connection between the humerus and radius, called a humeroradial synostosis, so that the elbow is fixed in one position.
[4] A review of the clinical and bioarchaeological literature was conducted to assess differential diagnoses for the conjoined humerus, radius, and ulna.
[5] Some of these cases, especially humeroradial synostosis may be syndromic as they are associated with other congenital syndromes like Carpenter syndrome, Apert syndrome.
[6] by RK Oliveira · 2023 — At the elbow, humeroradial or longitudinal synostosis causes significant disability, which varies depending on hand function, elbow positioning, adjacent joints.
[7] Oct 22, 2024 — A review of the clinical and bioarchaeological literature was conducted to assess differential diagnoses for the conjoined humerus, radius, and ulna.
Additional Differential Diagnoses
- humeroradial synostosis
- Conjoined Humerus, Radius, and Ulna
- N syndrome
- Carpenter syndrome
Additional Information
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- A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity.
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