GeneHealth - Your precision medicine

Polydactyly

Disease Details

Family Health Simplified

Buy Membership

Description: Polydactyly is a congenital condition characterized by the presence of extra fingers or toes beyond the usual number.
Type: Polydactyly is a congenital physical anomaly characterized by having extra fingers or toes. The type of genetic transmission is typically autosomal dominant. However, it can sometimes arise from new mutations or be associated with other genetic conditions with different inheritance patterns.
Signs And Symptoms: Polydactyly is a condition where an individual has more than the usual number of fingers or toes.

Signs and Symptoms:
1. Presence of extra fingers or toes, which can vary in size and may appear fully formed or underdeveloped.
2. The extra digits can be located on the hand (preaxial, central, or postaxial) or foot, and may be attached by skin, bone, or a combination of both.
3. In some cases, the additional digits may be functional, while in others they may not have full range of motion or functionality.

No Available Information (nan) typically indicates there is no additional data to provide for the requested attribute or section.
Prognosis: For polydactyly, the prognosis generally depends on the specific case and any associated anomalies. Isolated polydactyly, where there are no additional abnormalities, usually has an excellent prognosis. Surgical intervention to remove the extra digit(s) is typically straightforward and leads to good functional and cosmetic outcomes. In cases where polydactyly is part of a syndrome or associated with other congenital anomalies, the prognosis will depend on the nature and severity of the associated conditions. Regular follow-up with a healthcare provider is recommended to monitor and manage any complications.
Onset: Onset: Polydactyly is typically present at birth, as it is a congenital condition.

Nan: The term "nan" is unclear in this context. If it was intended to refer to something specific or an abbreviation, please provide additional context for a more accurate response.
Prevalence: Polydactyly, which is the condition of having extra fingers or toes, occurs in about 1 in every 500 to 1,000 live births.
Epidemiology: Polydactyly is a congenital condition characterized by extra fingers or toes. The prevalence varies widely but is estimated to occur in approximately 1 in every 500 to 1,000 live births. It is more common in some populations, such as those of African descent, where the incidence can be as high as 1 in 150 live births. The condition can also be associated with certain genetic syndromes and can occur sporadically or through inherited genetic mutations.
Intractability: Polydactyly, a condition where an individual has extra fingers or toes, is not considered intractable. It can often be managed or treated through surgical intervention to remove the extra digits, especially if they cause functional or cosmetic concerns. The complexity of treatment may vary depending on the specifics of the case, but the condition itself is typically addressable with standard medical procedures.
Disease Severity: Polydactyly is typically not a severe condition. It involves the presence of extra fingers or toes and is generally found at birth. The severity can vary depending on the degree and complexity of the extra digits, but it is often corrected surgically with good outcomes. The condition can be an isolated trait or part of a syndrome, which might affect its overall severity.
Healthcare Professionals: Disease Ontology ID - DOID:1148
Pathophysiology: Polydactyly is a congenital condition characterized by the presence of extra fingers or toes. The pathophysiology of polydactyly typically involves genetic mutations that affect the development of the limb bud during embryogenesis. These mutations can occur in several different genes, with GLI3, ZNF141, MIPOL1, and STKLD1 being the most commonly implicated. This disruption in genetic signaling pathways, particularly those involving the Sonic Hedgehog (SHH) pathway, leads to aberrant patterns of digit formation, resulting in supernumerary digits. The condition can occur as an isolated anomaly or as part of a syndrome, and it follows various inheritance patterns, most commonly autosomal dominant.
Carrier Status: Polydactyly is often inherited in an autosomal dominant pattern, meaning only one copy of the altered gene is necessary to cause the condition. Carrier status isn't typically applicable, as individuals with one altered gene usually show symptoms. However, in rare cases tied to recessive inheritance patterns, a carrier with one normal and one altered gene may be asymptomatic.
Mechanism: Polydactyly is a congenital condition characterized by the presence of extra fingers or toes. It can occur in isolation or as part of a syndrome.

**Mechanism:**
Polydactyly typically arises during embryonic development. The developing limb buds form additional digits due to disruptions in the normal signaling pathways that regulate digit formation, leading to the extra digits. It can be classified as preaxial (extra digit on the thumb/big toe side), postaxial (extra digit on the little finger/little toe side), or central (extra digit arises from the middle three digits).

**Molecular Mechanisms:**
Polydactyly often involves mutations or alterations in genes that are critical for limb development. Key molecular pathways and genes associated with polydactyly include:

1. **SHH (Sonic Hedgehog) Pathway:**
- The Sonic Hedgehog (SHH) protein plays a crucial role in patterning the anterior-posterior axis of the limb bud. Mutations or misregulation in components of the SHH pathway, such as SHH itself or its downstream effectors (e.g., GLI3), can lead to the development of extra digits.

2. **GLI3 Gene:**
- GLI3 is a transcription factor that mediates the effects of SHH signaling. Mutations in the GLI3 gene can cause conditions such as Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome, both of which can include polydactyly as a feature.

3. **ZRS (Zone of Polarizing Activity Regulatory Sequence):**
- ZRS is a regulatory sequence that controls SHH expression in the limb bud. Mutations within the ZRS can lead to ectopic (abnormal) SHH expression, resulting in polydactyly.

4. **Hox Genes:**
- Hox genes are a group of related genes that determine the identity of body regions during development. Disruptions in their expression patterns can also contribute to limb abnormalities, including polydactyly.

Understanding these molecular mechanisms provides insight into how genetic and developmental processes can result in congenital limb deformities such as polydactyly.
Treatment: Polydactyly is a condition where a person has extra fingers or toes. Treatment typically involves surgical removal of the extra digit(s), especially if they impair function or cause cosmetic concerns. The timing of surgery usually depends on the individual's age, overall health, and the specific characteristics of the extra digit(s). In newborns, a simple procedure may be done using a suture to tie off the extra digit if it is not fully developed. Comprehensive evaluation by a specialist is recommended to ensure the best outcome.
Compassionate Use Treatment: Polydactyly is typically addressed with surgical intervention to remove the extra digit. As it is generally a congenital anatomical condition rather than a disease, there isn't a standard compassionate use treatment, nor are off-label or experimental treatments typically applicable. The focus remains on appropriate surgical correction to enhance functionality and aesthetic outcomes. Some cases may involve additional measures like physical therapy post-surgery to improve hand or foot function.
Lifestyle Recommendations: Polydactyly is a congenital condition where a person has extra fingers or toes. Lifestyle recommendations for individuals with polydactyly typically depend on the functional impact of the extra digits, which can vary widely.

1. **Medical Evaluation:** Regular check-ups with a healthcare provider, especially if surgery or other treatments are being considered.
2. **Surgery and Rehabilitation:** If the extra digit is removed, follow post-operative care instructions and possibly engage in rehabilitation or physical therapy to ensure optimal function and healing.
3. **Adaptations in Daily Activities:** Modify activities if necessary to accommodate the extra digit, such as choosing appropriate footwear or adjusting objects for a better grip.
4. **Footwear and Clothing:** Ensure footwear is comfortable and accommodates any extra digits to prevent discomfort or complications.
5. **Activity Choices:** Engage in activities that do not put undue stress on the hands or feet, especially if the extra digits cause discomfort or functional limitations.
6. **Social and Psychological Support:** Seek support from family, friends, or support groups if there are social or emotional challenges related to the condition.

Consult with healthcare providers for personalized recommendations based on the specific nature and impact of the individual's polydactyly.
Medication: Polydactyly is a congenital condition characterized by the presence of extra fingers or toes. It is usually treated surgically, rather than with medication, to remove the extra digits and improve hand or foot function. The necessity and timing of surgery depend on the specific case and the functional impact of the extra digits.
Repurposable Drugs: There are currently no specific repurposable drugs for polydactyly, as it is primarily a congenital physical anomaly involving extra fingers or toes. Treatment usually involves surgical intervention to remove the extra digits if necessary.
Metabolites: Polydactyly, a congenital condition characterized by extra fingers or toes, does not have a direct link to specific metabolites. It is generally caused by genetic mutations rather than metabolic abnormalities. If there's additional context or a related topic you're inquiring about, please specify.
Nutraceuticals: Polydactyly is primarily a genetic condition characterized by the presence of extra fingers or toes. Nutraceuticals have not been shown to play a role in the treatment or prevention of polydactyly. Management typically involves surgical intervention to remove the extra digit if it causes functional or cosmetic concerns.
Peptides: Polydactyly is a congenital condition characterized by the presence of extra fingers or toes. The occurrence of polydactyly involves genetic mutations that can affect the development of limbs. Treatment may involve surgical removal of the extra digit if it causes functional or aesthetic concerns. Peptides and nanotechnology are not directly related to the treatment or understanding of polydactyly.