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Synpolydactyly

Disease Details

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Description: Synpolydactyly is a congenital disorder characterized by both webbing (syndactyly) and extra digits (polydactyly) on the hands and/or feet.
Type: Synpolydactyly is a congenital limb malformation characterized by both syndactyly (fusion of fingers or toes) and polydactyly (extra fingers or toes). It is typically inherited in an autosomal dominant pattern.
Signs And Symptoms: ### Signs and Symptoms of Synpolydactyly

**Synpolydactyly** is a congenital condition characterized by the fusion (syndactyly) and duplication (polydactyly) of digits. Here are the primary signs and symptoms:

1. **Fused Fingers or Toes**: Individuals often have webbed or fused digits, which may affect one or more fingers or toes.
2. **Extra Fingers or Toes**: Presence of additional digits, which can appear alongside the fused digits.
3. **Shortened Fingers or Toes**: The fingers or toes may be shorter than normal.
4. **Joint Deformities**: Abnormal joint formation or positioning can occur, leading to limited mobility or unusual angles.
5. **Nail Abnormalities**: Nails on the affected digits may be malformed or partially developed.
6. **Hand and Foot Malformations**: Overall structure of the hands and feet may be altered due to the abnormalities in the digits.
7. **Bilateral Symmetry**: Often, both hands and/or both feet are symmetrically affected.

Those with synpolydactyly can experience functional limitations and may require medical or surgical intervention to improve usability and aesthetic appearance.
Prognosis: Synpolydactyly prognosis varies based on the severity of the condition and the presence of associated anomalies. Generally, with appropriate surgical intervention and rehabilitation, individuals can achieve improved hand and foot function. However, some may experience residual functional limitations. Overall quality of life can be good, especially with early and comprehensive medical care.
Onset: Synpolydactyly (SPD) typically presents at birth, as it is a congenital condition. It involves both an abnormal number of fingers or toes (polydactyly) and the fusion of digits (syndactyly).
Prevalence: Synpolydactyly is a rare congenital malformation characterized by the presence of extra fingers or toes (polydactyly) that are also fused together (syndactyly). The exact prevalence of synpolydactyly is not well-documented due to its rarity, but it is considered to be a very uncommon condition.
Epidemiology: Synpolydactyly is a rare congenital limb malformation characterized by the presence of extra fingers or toes (polydactyly) combined with fusion of these digits (syndactyly). Its epidemiology is as follows:

- **Prevalence:** Synpolydactyly is extremely rare, with an estimated prevalence of less than 1 in 100,000 live births.
- **Genetic Factors:** It is often associated with mutations in the HOXD13 gene, which plays a critical role in limb development.
- **Inheritance Pattern:** The condition is primarily inherited in an autosomal dominant manner, although variable expressivity and incomplete penetrance can occur.
- **Demographics:** Synpolydactyly affects males and females equally and has been reported in various ethnic groups.

Epidemiological data on synpolydactyly is limited due to its rarity.
Intractability: Synpolydactyly is generally manageable rather than intractable. It is a congenital condition characterized by the presence of extra digits and the fusion of some digits on the hands and/or feet. Treatment typically involves surgical intervention to improve function and appearance. Early diagnosis and appropriate surgical treatment can lead to good outcomes, though it may require multiple surgeries and follow-up care.
Disease Severity: Synpolydactyly is a congenital limb malformation characterized by the presence of extra digits and webbing or fusion between fingers or toes. The severity can vary widely, ranging from mild to severe. In milder cases, there may only be slight webbing or small extra digits, while in more severe cases, there can be significant fusion and functional impairment of the hands or feet.
Healthcare Professionals: Disease Ontology ID - DOID:0060242
Pathophysiology: Synpolydactyly (SPD) is a congenital limb malformation characterized by the presence of extra fingers or toes (polydactyly) along with the fusion of these additional digits (syndactyly). This condition is typically caused by mutations in the HOXD13 gene, which plays a critical role in the development of the limbs during embryogenesis. The mutation usually involves an expanded polyalanine repeat, leading to abnormal protein function that disrupts normal digit formation and results in the characteristic limb abnormalities seen in synpolydactyly.
Carrier Status: Synpolydactyly is an inherited condition characterized by fused fingers or toes and additional digits. It is typically associated with mutations in the HOXD13 gene. Individuals with one mutated copy of the gene (heterozygous) may have milder symptoms or may be carriers with no symptoms, while those with mutations in both copies (homozygous) usually exhibit more severe manifestations. Carrier status refers to individuals who have one normal and one mutated gene and may not show symptoms but can pass the mutated gene to their offspring.
Mechanism: Synpolydactyly is a congenital limb malformation characterized by the presence of extra fingers or toes (polydactyly) combined with webbing or fusion (syndactyly) of digits. The molecular mechanisms underlying synpolydactyly primarily involve mutations in the HOXD13 gene.

**Mechanism:**
The HOXD13 gene plays a critical role in the development of limbs. It belongs to the homeobox gene family, which encodes transcription factors responsible for the regulation of patterns of anatomical development.

**Molecular Mechanisms:**
1. **HOXD13 Mutations:** Mutations in the HOXD13 gene are the most common cause of synpolydactyly. These mutations can involve expansions of a polyalanine tract within the gene, which affects the protein's normal function.
2. **Polyalanine Expansions:** The polyalanine expansions in HOXD13 lead to a gain-of-function or altered function of the protein, disrupting normal digit development.
3. **Dominant Inheritance:** The condition is typically inherited in an autosomal dominant manner, meaning a single copy of the altered gene is sufficient to cause the disorder.
4. **Impact on Cell Differentiation and Growth:** HOXD13 mutations disrupt the gene’s role in regulating cell differentiation and growth during limb development, resulting in the combined anomalies of syndactyly and polydactyly seen in affected individuals.

Understanding the specific genetic mutation and its effect on limb development pathways is crucial for diagnosing and potentially developing targeted therapies for synpolydactyly.
Treatment: Synpolydactyly is a congenital condition characterized by the presence of extra fingers or toes, often fused together. Treatment typically involves surgical intervention to separate fused digits and remove extra fingers or toes, with the goal of improving function and appearance. Early intervention is often recommended to achieve the best outcomes. Post-surgical rehabilitation and physical therapy may also be necessary to optimize hand or foot function.
Compassionate Use Treatment: Synpolydactyly is a congenital malformation characterized by the combination of syndactyly (fusion of fingers or toes) and polydactyly (extra fingers or toes). There aren't standard compassionate use treatments specifically for synpolydactyly, but management often involves surgical correction to improve function and appearance of the hands or feet. Off-label or experimental treatments are limited, as the primary approach remains surgical. Research into gene therapy and molecular interventions could provide future options, but these are currently in experimental stages and not widely available. Therapeutic decisions are generally case-specific and require a thorough evaluation by a multidisciplinary team.
Lifestyle Recommendations: Synpolydactyly is a congenital condition characterized by the presence of extra digits that are also fused together. Lifestyle recommendations for individuals with synpolydactyly may include:

1. **Regular Medical Follow-Up**: Regular check-ups with a healthcare provider, including specialists such as orthopedic surgeons or geneticists, can help manage any complications or make decisions about potential surgical interventions.

2. **Physical Therapy**: Engaging in physical therapy can improve hand or foot function and enhance dexterity, especially after surgical correction.

3. **Adaptive Tools and Techniques**: Use of adaptive tools and techniques to aid in daily activities and improve quality of life. This can include specialized keyboards, utensils, or other devices to assist with fine motor tasks.

4. **Support Networks**: Connecting with support groups or networks for individuals with similar conditions can provide emotional and practical support.

5. **Healthy Lifestyle**: Maintaining a generally healthy lifestyle with a balanced diet and regular exercise can support overall well-being and physical health.

6. **Modification of Activities**: Some modifications in physical activities might be necessary to ensure comfort and prevent strain or injury, especially in the case of untreated or partially treated synpolydactyly.

Each individual's needs may vary, so personalized recommendations from a healthcare provider are essential.
Medication: Synpolydactyly is a congenital condition characterized by a combination of webbed (syndactyly) and extra (polydactyly) fingers or toes. There is no specific medication to treat synpolydactyly, as it typically involves surgical intervention to correct the physical abnormalities of the digits. Pain management and physical therapy may be part of post-surgical care, depending on the individual case. In some instances, genetic counseling may be recommended for affected families.
Repurposable Drugs: Currently, there are no specific repurposable drugs identified for the treatment of synpolydactyly. This condition is primarily addressed through surgical interventions to correct the malformations, and management is tailored to the individual's specific needs. Genetic counseling and regular follow-ups with a specialist are also recommended.
Metabolites: Synpolydactyly is a congenital condition characterized by the presence of extra fingers or toes along with webbing of these digits. This condition is caused by mutations in the HOXD13 gene. There are no specific metabolites directly linked to synpolydactyly as it primarily involves genetic and developmental anomalies rather than metabolic disturbances.
Nutraceuticals: Synpolydactyly is a congenital limb malformation characterized by the fusion of digits (syndactyly) and the presence of extra fingers or toes (polydactyly). Nutraceutical interventions are not typically relevant for this genetic condition as it often requires surgical correction to improve function and appearance. Treatment and management usually involve orthopedic and surgical specialties rather than dietary supplements or nutraceuticals aimed at modifying the condition.
Peptides: Synpolydactyly is a congenital limb malformation characterized by the presence of extra fingers or toes, as well as webbing or fusion of these extra digits. It is typically caused by mutations in the HOXD13 gene, which plays a crucial role in limb development. There is no specific link between peptides and synpolydactyly; the condition is primarily associated with genetic mutations rather than peptide interactions or therapies. Nanotechnology (nan) also does not have a direct role in the current understanding or treatment of synpolydactyly. Management usually involves surgical correction and genetic counseling.