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proximal symphalangism
ICD-10 Codes
Related ICD-10:
Description
Proximal symphalangism is a rare genetic bone disorder that affects the joints in the hands and feet. The condition is characterized by ankylosis (fusion) of the proximal interphalangeal joints, which are the joints located near the base of the fingers and toes.
Key Features:
- Ankylosis of the proximal interphalangeal joints [1]
- Fusion of carpal and tarsal bones [2]
- Conductive hearing loss in some cases [3]
Individuals with proximal symphalangism may experience stiffness and limited mobility in their elbows, ankles, and other joints. The condition is usually inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the disorder.
Types:
- Proximal symphalangism-1A (SYM1A) is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion [4]
- Proximal symphalangism (SYM) is an autosomal-dominant condition characterized by variable fusion of the proximal interphalangeal joints [5]
Proximal symphalangism is a rare condition, and its exact prevalence is unknown. However, it is considered to be one of the many genetic disorders that affect the musculoskeletal system.
References:
[1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5
Additional Characteristics
- Proximal symphalangism is a rare genetic bone disorder that affects the joints in the hands and feet.
- Ankylosis (fusion) of the proximal interphalangeal joints, which are the joints located near the base of the fingers and toes.
- Stiffness and limited mobility in their elbows, ankles, and other joints.
- An autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion (Proximal symphalangism-1A).
- Variable fusion of the proximal interphalangeal joints (Proximal symphalangism).
Signs and Symptoms
Proximal symphalangism is a rare genetic bone disorder characterized by ankylosis (fusion) of the proximal interphalangeal joints, carpal, and tarsal bones. The symptoms of this condition can vary in severity and may include:
- Ankylosis of the proximal interphalangeal joints: This is a hallmark feature of proximal symphalangism, where the joints between the bones in the fingers are fused together.
- Carpal and tarsal bone fusion: In addition to the finger joints, the carpal (wrist) and tarsal (ankle) bones may also be fused together.
- Reduced range of motion: Individuals with proximal symphalangism may experience reduced mobility in their fingers, wrists, and ankles due to the joint fusions.
- Stiffness: The affected joints may feel stiff or rigid, making it difficult to move them through a full range of motion.
- Lack of volar skin folds: In some cases, individuals with proximal symphalangism may have reduced or absent skin folds on the palmar surface (the underside) of their fingers.
- Strabismus: Some people with this condition may experience strabismus (crossed eyes).
- Finger syndactyly: There may be webbing or fusion between the fingers, particularly in the case of proximal symphalangism-1A.
It's essential to note that these symptoms can vary in severity and may not be present in all individuals with proximal symphalangism. A diagnosis is typically made through a combination of clinical evaluation, radiographic imaging (such as X-rays), and genetic testing.
References:
- [10] Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion.
- [11] Proximal symphalangism-1A (SYM1A) is an autosomal dominant disorder
Additional Symptoms
- Strabismus
- Stiffness
- Ankylosis of the proximal interphalangeal joints
- Carpal and tarsal bone fusion
- Reduced range of motion
- Lack of volar skin folds
- Finger syndactyly
Diagnostic Tests
Proximal symphalangism, also known as Symphalangism (SYM1), is a rare genetic disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss. Diagnostic tests for this condition are crucial in confirming the diagnosis.
Available Genetic Tests
According to search results [1], available genetic tests from US and labs around the world can be used to diagnose Proximal symphalangism. These tests include:
- Exome-based NextGen sequencing with CNV analysis, which is a cost-effective approach that allows for reflexing to PGxome or other exome-based testing [6].
- NOG mutation analysis, which is also useful in the diagnosis of Tarsal-Carpal Coalition Syndrome (OMIM #186570), Stapes Ankylosis with broad thumbs and toes, and Proximal symphalangism [7].
Diagnostic Confirmation
Confirmation of a diagnosis of Proximal Symphalangism (SYM1, OMIM # 185800) can be made through genetic testing, including medical geneticist interpretation of results billed as a separate service [10]. An X-ray of the affected finger will reveal the fusion of the proximal and middle phalanges, confirming the diagnosis [4].
Clinical Trials
While not directly related to diagnostic tests, clinical trials may also provide valuable information on the effectiveness and safety of new treatments for Proximal symphalangism. These trials compare groups receiving different tests/treatments to determine their efficacy and safety [2].
In summary, diagnostic tests for proximal symphalangism include genetic testing such as exome-based NextGen sequencing with CNV analysis and NOG mutation analysis, as well as X-ray confirmation of the fusion of the proximal and middle phalanges.
References: [1] - Clinical resource with information about Proximal symphalangism and its clinical features [2] - Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [4] - In the case of Symphalangism, an X-ray of the affected finger will reveal the fusion of the proximal and middle phalanges, confirming the diagnosis. [6] - Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based ... [7] - NOG mutation analysis is also useful in the diagnosis of Tarsal-Carpal Coalition Syndrome (OMIM #186570), Stapes Ankylosis with broad thumbs and toes and ... [10] - Confirmation of a diagnosis of Proximal Symphalangism (SYM1, OMIM # 185800) ... Test includes medical geneticist interpretation of results billed as a separate ...
Additional Diagnostic Tests
- Exome-based NextGen sequencing with CNV analysis
- NOG mutation analysis
- X-ray confirmation of the fusion of the proximal and middle phalanges
Treatment
Proximal symphalangism, also known as Cushing's symphalangism, is a rare genetic condition characterized by the fusion of the proximal joints in the hands and feet [2]. While there are no specific medications for the treatment of proximal symphalangism, various treatments may be used to relieve associated symptoms.
According to medical literature, surgical intervention is rarely indicated for proximal symphalangism, and physical, occupational, and exercise therapies are usually beneficial [4]. However, in some cases, surgical procedures such as dorsal capsulotomy and collateral ligament release may be performed to restore mobility in the affected joints [7].
Additionally, there are no specific medications approved for the treatment of proximal symphalangism. However, various treatments may be used to relieve associated symptoms, such as pain management and physical therapy [6]. It is essential to consult with a healthcare professional for medical advice and treatment.
It's worth noting that proximal symphalangism is a rare condition, and more research is needed to fully understand its causes and effective treatments. However, based on the available information, it appears that a multidisciplinary approach involving physical therapy, occupational therapy, and in some cases, surgical intervention may be beneficial for managing symptoms associated with this condition.
References:
[2] Proximal symphalangism is a rare genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some cases [3].
[4] Surgical intervention is rarely indicated for proximal symphalangism, and physical, occupational, and exercise therapies are usually beneficial [4].
[6] There are currently no specific medications for the treatment of proximal symphalangism, but various treatments may be used to relieve associated symptoms [6].
[7] Dorsal capsulotomy and collateral ligament release may be performed to restore mobility in the affected joints [7].
Recommended Medications
- physical therapy
- occupational therapy
- exercise therapies
- dorsal capsulotomy
- collateral ligament release
💊 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 Proximal Symphalangism
Proximal symphalangism, a rare genetic condition characterized by the fusion of proximal joints in the hands and feet, requires careful differential diagnosis to rule out other conditions with similar symptoms. Here are some key points to consider:
- Brachydactyly: Fusion of interphalangeal joints occurs in various types of brachydactyly, particularly BDA1, BDA2, BDC, and BDB [3]. Identical mutations in the NOG gene can cause either tarsal/carpal coalition syndrome or proximal symphalangism [3].
- Cooks Syndrome: Fusion of interphalangeal joints is also seen in Cooks syndrome, which must be considered in the differential diagnosis [3].
- Tarsal/Carpal Coalition Syndrome: This condition can be distinguished from multiple synostoses syndrome and proximal symphalangism by the absence of hearing loss [8].
- Multiple Synostoses Syndrome: Similar joint fusions are seen in this condition, but it is characterized by more extensive involvement of joints throughout the body [3].
- Gorham-Stout Disease: This rare condition involves spontaneous bone resorption and must be considered in the differential diagnosis [7].
- Ankylosis of IP Joints: This was first described by Harvey Cushing in 1916 as a dominantly inherited disorder, which is now known to be associated with proximal symphalangism [10].
Key Points
- Proximal symphalangism requires careful differential diagnosis to rule out other conditions with similar symptoms.
- Brachydactyly, Cooks syndrome, tarsal/carpal coalition syndrome, multiple synostoses syndrome, Gorham-Stout disease, and ankylosis of IP joints are all potential differential diagnoses.
References
[3] Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism. [7] Gorham-Stout Disease: a rare condition involving spontaneous bone resorption. [8] Tarsal/Carpal Coalition Syndrome: distinguished from multiple synostoses syndrome and proximal symphalangism by the absence of hearing loss. [10] Ankylosis of IP Joints: first described by Harvey Cushing in 1916 as a dominantly inherited disorder.
Additional Differential Diagnoses
- Ankylosis of IP Joints
- brachydactyly
- N syndrome
- tarsal-carpal coalition syndrome
- multiple synostoses syndrome
- disease
Additional Information
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