proximal symphalangism 2

Proximal Symphalangism: A Rare Genetic Condition

Proximal symphalangism, also known as Cushing's symphalangism, is a rare genetic condition characterized by the fusion of the proximal joints in the fingers and toes. This condition is caused by an autosomal dominant mutation, which means that only one copy of the mutated gene is needed to express the condition.

Key Features:

• Fusion of the proximal interphalangeal joints
• Ankylosis (fusion) of the carpal and tarsal bones
• Variable fusion of the proximal interphalangeal joints

Proximal symphalangism is a very rare condition, with only a few reported cases in medical literature. It is often associated with other congenital limb malformations.

Causes and Symptoms:

The exact cause of proximal symphalangism is unknown, but it is believed to be related to genetic mutations that affect the development of the joints and bones. The symptoms of this condition include:

• Limited mobility in the affected fingers or toes
• Fusion of the proximal interphalangeal joints
• Ankylosis of the carpal and tarsal bones

References:

• [1] Proximal symphalangism is a rare genetic condition characterized by the fusion of the proximal joints in the fingers and toes. (Source: 2)
• The condition is caused by an autosomal dominant mutation, which means that only one copy of the mutated gene is needed to express the condition. (Source: 3)
• Proximal symphalangism is a very rare condition, with only a few reported cases in medical literature. (Source: 5)
• The symptoms of this condition include limited mobility in the affected fingers or toes, fusion of the proximal interphalangeal joints, and ankylosis of the carpal and tarsal bones. (Source: 8)

Proximal symphalangism, also known as SYM1A, is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints. The clinical signs and symptoms of this condition include:

• Ankylosis of the proximal interphalangeal joints: This means that the joints closest to the fingers' bases are fused together, leading to stiffness and reduced mobility in the affected fingers.
• Carpal and tarsal synostosis: In some cases, there may be fusion of the bones in the wrists (carpal bones) or ankles (tarsal bones), which can lead to additional symptoms such as stiffness and limited range of motion.
• Camptodactyly of finger: This is a condition where one or more fingers are bent into a permanent flexed position, often due to muscle imbalance or joint fusion.
• Proximal symphalangism: As mentioned earlier, this refers to the ankylosis of the proximal interphalangeal joints.

Other signs and symptoms that may be associated with proximal symphalangism include:

• Abnormally short middle fingers
• Webbed toes
• Hearing loss due to stapes fixation: This is a condition where the bones in the ears are fused together, leading to conductive hearing loss.
• Stiffness and reduced range of motion in the affected joints
• Lack of volar skin folds: The skin on the palms may appear normal, but there may be a lack of skin folds on the palmar surface.

These symptoms can vary in severity and may not always be present. In some cases, proximal symphalangism may be an incidental finding on radiographs (X-rays), meaning that it is discovered by chance during an imaging study for another reason.

References:

• [2] Clinical Signs and Symptoms
• [4] Clinical signs and symptoms
• [5] Other signs and symptoms include abnormally short middle fingers, webbed toes, and hearing loss that is due to fusion of the bones in the ears (stapes fixation)
• [7] Fibrous symphalangism (Grade I) is characterized by mild joint narrowing, and approximately 10–20° of passive ROM.

Diagnostic Tests for Proximal Symphalangism

Proximal symphalangism, a rare genetic condition characterized by the fusion of the proximal joints in the hands and feet, can be diagnosed through various tests. Here are some diagnostic tests that may be used to confirm the presence of this condition:

• Genetic testing: Genetic testing can identify mutations in the NOG gene, which is associated with proximal symphalangism. This test can be performed on a blood sample or other tissue.
• Molecular diagnosis: Molecular diagnosis involves analyzing the DNA sequence of the NOG gene to confirm the presence of a mutation.
• Exome-based NextGen sequencing: Exome-based NextGen sequencing is a comprehensive genetic testing approach that analyzes all protein-coding genes in the genome. This test can identify mutations in the NOG and GDF5 genes, which are associated with proximal symphalangism.

Diagnostic Teams

A diagnostic team for proximal symphalangism may include:

• Genetics: A geneticist or medical geneticist can provide expertise on the diagnosis and management of genetic conditions.
• Orthopedics: An orthopedic specialist can assess joint mobility and provide guidance on treatment options.

Ordering Diagnostic Tests

Diagnostic tests for proximal symphalangism can be ordered through various channels, including:

• Clinical Molecular Genetics test: This test is available from Praxis fuer Humangenetik Wien.
• Sequence analysis of the entire coding region: This test is also offered by Praxis fuer Humangenetik Wien.

Practice Guidelines and Authoritative Resources

For clinicians ordering diagnostic tests for proximal symphalangism, practice guidelines and authoritative resources such as GeneReviews, PubMed, MedlinePlus, and PharmGKB can provide valuable information to support informed testing decisions.

References:

• [3] Diagnostic tests Laboratories; Diagnostic tests; Research and trials ...
• [12] Clinical Molecular Genetics test for Proximal symphalangism 1A and using Sequence analysis of the entire coding region, Uni-directional Sanger sequencing offered by Praxis fuer Humangenetik Wien.
• [13] Examine the contralateral hand; symphalangism can be bilateral. Variations. Determine whether the symphalangism is fibrous, cartilaginous, or bony at the time of the exam.

Pharmacological treatment for proximal symphalangism

Proximal symphalangism, a rare genetic bone disorder, can be treated with pharmacological interventions to manage associated pain syndromes. According to the available information [1], general treatment aims at rehabilitation and improvement of limb functions.

• Pain management: Pharmacological treatment is often used to treat associated pain syndromes in patients with proximal symphalangism [3].
• Specific medications: While specific medications are not mentioned, it can be inferred that analgesics or other pain-relieving medications may be prescribed to manage pain and discomfort associated with the condition.

It's essential to note that surgical intervention is rarely indicated for proximal symphalangism, and physical, occupational, and exercise therapies are usually beneficial [4]. However, in some cases, pharmacological treatment may be necessary to alleviate symptoms.

References:

[1] General treatment aimed at rehabilitation and improvement of limb functions. [3] Pharmacological treatment often used to treat associated pain syndromes. [4] Surgical intervention is rarely indicated, and physical, occupational, and exercise therapies are usually beneficial.

Proximal symphalangism, also known as symphalangism type 2, is a rare genetic disorder characterized by the fusion of the proximal interphalangeal joints. When considering differential diagnoses for this condition, several other conditions should be taken into account.

• Gorham-Stout disease: This is a rare bone disorder that can cause the destruction and replacement of bones with soft tissue. It may present with similar symptoms to proximal symphalangism, such as joint fusion and deformity.
• Multiple synostoses syndrome: This is a genetic disorder characterized by the premature closure of joints (synostosis) in multiple parts of the body. While it can cause joint fusion, it typically affects more than just the interphalangeal joints.
• Tarsal-carpal coalition syndrome: This is a rare condition where there is an abnormal connection between the tarsal and carpal bones in the wrist. It may present with similar symptoms to proximal symphalangism, such as joint fusion and deformity.

These conditions should be considered in the differential diagnosis of proximal symphalangism type 2, as they can cause similar symptoms and may require similar treatment approaches [1][5][7].

References: [1] - Context result 5 [5] - Context result 7 [7] - Context result 7