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Syndactyly Type 5

Disease Details

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Description: Syndactyly type 5 is a rare congenital malformation characterized by the fusion of fingers or toes, often involving complex bone and soft tissue anomalies.

One-sentence description: Syndactyly type 5 is a rare congenital condition where fingers or toes are fused together with associated complex bone and soft tissue differences.
Type: Syndactyly type 5 is a congenital limb malformation characterized by the fusion of fingers, typically the fourth and fifth fingers. It is generally transmitted in an autosomal dominant pattern.
Signs And Symptoms: Syndactyly type 5 is a rare congenital condition characterized by partial or complete webbing or fusion of the fingers or toes.

**Signs and Symptoms:**
- Webbing or fusion of fingers or toes, typically involving the fourth and fifth digits.
- The extent of the fusion can vary from a simple webbing of the skin to complete bony fusion.
- It may present unilaterally or bilaterally.
- Affected individuals may have functional impairments in the movement of the hands or feet, depending on the severity.
- There may also be associated skeletal abnormalities, but this varies among individuals.

Additional symptoms specific to syndactyly type 5 are not well-documented due to its rarity. Evaluation by a healthcare provider is necessary for an accurate diagnosis and to understand the full extent of the condition.
Prognosis: Syndactyly type 5 is a rare congenital condition characterized by the fusion of fingers or toes. The prognosis for individuals with syndactyly type 5 is generally good, especially with appropriate surgical intervention to separate the digits. This can improve hand function and appearance. Most people with this condition can lead normal, healthy lives, although they may require physical therapy and follow-up surgeries for optimal outcomes.
Onset: Syndactyly type 5 typically presents at birth (congenital onset).
Prevalence: Syndactyly type 5 is a rare form of syndactyly characterized by the fusion of fingers or toes. The prevalence is not well-documented due to its rarity.
Epidemiology: Syndactyly type 5 is a rare congenital condition characterized by the fusion of fingers or toes. Due to its rarity, there is limited specific epidemiological data available. Generally, syndactyly occurs in approximately 1 in 2,000 to 3,000 live births. However, precise data for type 5, which involves both simple and complex webbing of fingers or toes, are not well-documented.
Intractability: Syndactyly type 5 is a genetic condition characterized by webbing or fusion of the fingers or toes, and is generally considered a congenital malformation. In terms of intractability, surgical intervention can often improve function and appearance, particularly if performed early in life. While the condition itself may not be curable in the sense that the underlying genetic cause remains, it is not considered intractable because effective treatments exist to manage and alleviate symptoms.
Disease Severity: Syndactyly type 5 is a congenital condition characterized by the fusion of digits. The severity can vary, but typically it involves more complex and extensive webbing or fusion compared to other types of syndactyly. It may also be associated with other anomalies, potentially requiring surgical intervention to improve function and appearance.
Healthcare Professionals: Disease Ontology ID - DOID:0111819
Pathophysiology: Syndactyly type 5 is a rare congenital limb malformation characterized by the fusion of digits, primarily affecting the skin but sometimes involving bones and other tissues. The pathophysiology involves genetic mutations that affect the normal separation of digits during embryonic development. These genetic factors disrupt the processes that control apoptosis (programmed cell death) in the interdigital spaces, leading to the persistence of webbed digits.
Carrier Status: Syndactyly type 5 is a genetic condition characterized by the fusion of digits. Carrier status typically refers to individuals who carry one copy of a gene mutation that can lead to a genetic disorder if two copies of the mutated gene are present. As syndactyly type 5 is often inherited in an autosomal dominant manner, individuals with a single copy of the mutation can express the condition, meaning there isn't a "carrier" state in the traditional sense used for autosomal recessive conditions. For autosomal dominant conditions, people with the mutation usually show symptoms.
Mechanism: Syndactyly type 5 is a congenital limb malformation characterized by the fusion of digits, typically involving complex webbing or fusion. The molecular mechanisms underlying syndactyly type 5 are not fully understood, but like other forms of syndactyly, it is believed to involve disruptions in the signaling pathways that regulate digit separation during embryonic development.

Key signaling molecules and pathways implicated include:

1. **FGF (Fibroblast Growth Factors):** These play a critical role in limb development, and disruptions can lead to syndactyly.

2. **Hox Genes:** These genes are crucial for proper limb patterning and development. Mutations or misexpression can cause digit malformations, including syndactyly.

3. **BMP (Bone Morphogenetic Proteins):** Involved in apoptosis (programmed cell death) necessary for digit separation. Alterations in BMP signaling can lead to incomplete separation of digits.

4. **WNT Signaling Pathway:** Important for the regulation of cell proliferation and differentiation during limb formation. Dysregulation can contribute to syndactyly.

Although syndactyly type 5 itself has not been specifically mapped to a single genetic mutation consistently, these pathways are integral to the overall process of digit separation, and disruptions in any of these can result in the condition. Further research may provide more definitive genetic causes specific to type 5.
Treatment: Treatment for Syndactyly Type 5 typically involves surgical intervention to separate the fused digits. The surgical approach may include creating web spaces between the digits and skin grafting if necessary. Post-operative care may involve physical therapy to improve function and range of motion. Regular follow-ups are essential to monitor healing and the success of the surgery.
Compassionate Use Treatment: Syndactyly type 5 is a rare congenital condition characterized by the fusion of fingers or toes. There are no specific treatments categorized under compassionate use or off-label for this condition. However, the following approaches may be considered for syndactyly in general:

1. **Surgical Intervention**: The primary treatment for syndactyly, including type 5, is surgical separation of the digits to improve function and appearance. This is not experimental but rather a standard practice.

2. **Tissue Engineering and Regenerative Medicine**: Experimental approaches in tissue engineering and regenerative medicine are being explored to improve surgical outcomes and healing, though these are primarily in research phases.

3. **3D Printing**: Experimental use of 3D printing technologies to create custom surgical templates and implants may offer precision in complex cases.

For information about potential compassionate use treatment, it would typically require discussion with a healthcare provider, as these are case-specific and regulated by national health authorities.
Lifestyle Recommendations: Syndactyly type 5 is a congenital condition characterized by the fusion of fingers or toes. Lifestyle recommendations for individuals with syndactyly type 5 include:

1. **Hand and Foot Care**: Regular inspection and care to prevent infections and maintain skin health.
2. **Ergonomic Tools**: Use modified or ergonomic tools and utensils to aid in daily activities.
3. **Physical Therapy**: Engage in physical therapy to improve hand and foot function, strength, and dexterity.
4. **Exercise**: Participate in exercises that promote flexibility and strength without overstraining the affected areas.
5. **Regular Medical Check-ups**: Maintain regular appointments with healthcare providers to monitor and manage the condition.
6. **Adaptive Techniques**: Learn and adopt adaptive techniques or devices to facilitate activities of daily living.

Consult with healthcare professionals for personalized recommendations based on the severity and specific manifestations of the condition.
Medication: For syndactyly type 5, medication is generally not applicable (N/A) as it is a congenital malformation that typically requires surgical intervention rather than pharmacological treatment. Syndactyly type 5 involves the fusion of digits, and correction usually involves procedures to separate the fused digits, followed by physical therapy to restore function and appearance.
Repurposable Drugs: For syndactyly type 5, there are no specific repurposable drugs identified as of now. Management typically involves surgical intervention to separate the fused digits.
Metabolites: Syndactyly type 5 is a rare congenital limb malformation characterized by the fusion of fingers or toes. The condition is part of a spectrum of syndactylies and can vary in severity. Currently, there is no well-documented information establishing specific metabolites associated with syndactyly type 5. The condition is typically diagnosed via clinical assessment and genetic testing rather than through metabolic profiling.
Nutraceuticals: There are no known nutraceuticals or nutritional supplements specifically proven to treat or manage Syndactyly Type 5, a congenital condition characterized by the webbing or fusion of fingers or toes. Treatment typically involves surgical intervention to separate the digits and improve function and appearance. Nutraceuticals do not play a role in the direct treatment of this genetic disorder.
Peptides: Syndactyly type 5 is a genetic condition characterized by webbing or fusing of the fingers and/or toes. It traditionally affects the fourth and fifth fingers. The involvement of peptides in this condition is not specific. Peptides are short chains of amino acids that can play various roles in biological processes, including development and cellular signaling. However, there is no direct correlation between specific peptides and the manifestation of syndactyly type 5. Current treatment approaches mainly focus on surgical separation of the fused digits to improve function and appearance. Nanotechnology-based treatments are still in the research phase and are not established for this specific condition.