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Brachydactyly Type D

Disease Details

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Description: Brachydactyly type D is a genetic condition characterized by the shortening of the distal phalanges of the thumbs, leading to unusually short thumbs. One-sentence description: Brachydactyly type D causes abnormally short thumbs due to the shortened distal phalanges.
Type: Brachydactyly type D is inherited in an autosomal dominant pattern.
Signs And Symptoms: Signs and Symptoms: Brachydactyly type D, also known as short thumb syndrome, is characterized primarily by the shortening of the distal phalanges of the thumbs. People with this condition typically have thumbs that appear shorter compared to the other fingers, with the nail bed often being wider than usual. Aside from the cosmetic appearance, individuals usually do not experience significant functional impairment or associated health problems due to this condition.

NAN: Not Applicable (nan) implying there are no additional notable attributes not already covered in the signs and symptoms or no additional data relevant under the question's context.
Prognosis: Brachydactyly type D (BDD) is a genetic condition characterized by shortening of the distal phalanges of the thumbs. The prognosis for individuals with BDD is generally excellent, as it typically does not affect overall health or life expectancy. Most individuals experience normal hand function and do not require medical intervention beyond potential cosmetic concerns.
Onset: Brachydactyly type D typically presents at birth. It is characterized by the shortened distal phalanx of the thumb, often referred to as "clubbed thumb" or "stub thumb."
Prevalence: There isn't specific prevalence data available for brachydactyly type D, also known as short thumb or short distal phalanx of the thumb. This condition is relatively rare and often inherited in an autosomal dominant pattern. Due to its rarity and typically mild impact, detailed prevalence figures have not been extensively documented.
Epidemiology: Brachydactyly Type D is a genetic condition characterized by the shortening of the distal phalanges of the thumbs. Generally:

- **Epidemiology**: This condition is relatively rare and typically inherited in an autosomal dominant pattern. The exact prevalence is not well documented, but it tends to occur in all populations without specific ethnic predilections. Family history is often a key indicator of the condition.

- **Nan**: This term doesn't appear to be relevant to brachydactyly type D. If you need information on a different aspect or a correction, please let me know!
Intractability: Brachydactyly type D, characterized by shortened distal phalanges of the thumbs, is generally not considered intractable. It is a genetic condition and typically does not progress or cause significant functional impairment requiring ongoing medical intervention. Treatment is usually not necessary unless there are associated functional issues or for cosmetic reasons.
Disease Severity: Brachydactyly type D is a genetic condition characterized by the shortening of the distal phalanges, primarily affecting the thumbs. Disease severity is generally mild and does not usually lead to significant functional impairment or health issues.
Healthcare Professionals: Disease Ontology ID - DOID:0110971
Pathophysiology: Brachydactyly type D, also known as "short thumb," is a congenital condition characterized by the shortening of the distal phalanges of the thumbs.

Pathophysiology: The condition is primarily caused by mutations in the Indian Hedgehog (IHH) gene, which plays a critical role in cartilage development and bone growth. The mutations affect the signaling pathways that regulate the differentiation and proliferation of chondrocytes, leading to abnormal development of the bone structure, specifically the terminal phalanges. This results in shortened or stubby thumbs, while other digits typically remain unaffected. The condition is usually inherited in an autosomal dominant pattern.
Carrier Status: Brachydactyly type D is a genetic condition often characterized by a shortened distal phalanx of the thumb. It follows an autosomal dominant inheritance pattern. There isn't a carrier status for autosomal dominant conditions because only one copy of the mutated gene is sufficient to cause the trait or disorder. NAN is not applicable or relevant in this context.
Mechanism: Brachydactyly type D (BDD), also known as "short thumb," is primarily characterized by a shortening of the distal phalanges, particularly affecting the thumbs. The molecular mechanisms underlying BDD typically involve mutations in the HOXD13 gene. This gene plays a crucial role in limb development, particularly in the formation of digits.

The HOXD13 gene encodes a transcription factor that regulates the expression of other genes during early skeletal formation. Mutations in HOXD13 can lead to abnormal signaling, which affects the growth and development of the distal phalanges. This disruption in signaling pathways can result in shortened or malformed bones, specifically in the thumbs, which is a hallmark of brachydactyly type D.

In summary, the main molecular mechanism behind BDD involves mutations in the HOXD13 gene, leading to disrupted developmental pathways that govern bone growth in the digits.
Treatment: Brachydactyly Type D, also known as "short thumb," primarily affects the thumbs, which are shorter than usual. It is a congenital condition and typically does not require treatment unless it impacts hand function or causes significant concern. If intervention is needed, options may include physical therapy to enhance hand function or, in rare cases, surgical procedures to improve thumb length and functionality.
Compassionate Use Treatment: Brachydactyly Type D is a genetic condition characterized by shortness of the thumbs. Currently, there are no specific compassionate use treatments, off-label, or experimental treatments for this condition. Management typically focuses on symptomatic treatment and may include occupational therapy to improve hand function if needed. If there are specific functional impairments, consulting a specialist in genetics or orthopedics may be helpful for personalized management.
Lifestyle Recommendations: Brachydactyly Type D, also known as clubbed thumb, is a genetic condition characterized by shorter or stubbier thumbs due to abnormal bone development.

Lifestyle Recommendations:
1. **Occupational Therapy**: Engaging in occupational therapy can help improve the flexibility and function of the thumbs.
2. **Adaptive Tools**: Utilizing adaptive tools can make daily tasks easier. Items like thumb splints or modified grips on utensils can be helpful.
3. **Regular Exercise**: Gentle hand and finger exercises can maintain mobility and strength in the thumbs.
4. **Ergonomic Adjustments**: Making ergonomic adjustments to your workspace can reduce strain on your thumbs. For example, using keyboards and mice designed for those with limited finger range of motion.
5. **Avoid Strain**: Be mindful to avoid activities that excessively strain the thumbs, as overuse can lead to discomfort.
Medication: Brachydactyly type D (BDD) is a genetic condition characterized by shortening of the distal phalanges of the thumbs and big toes. There is no specific medication required or available for treating this condition, as it primarily involves bone structure. Treatment, if needed, often focuses on managing any functional issues through physical therapy or, in some cases, surgical interventions.
Repurposable Drugs: Brachydactyly Type D (BDD) is a genetic condition characterized by shortened or stubby fingers, particularly affecting the thumbs. There are no specific repurposable drugs currently identified for treating or curing Brachydactyly Type D. Treatment usually focuses on managing symptoms and may include physical therapy or surgical intervention if there are functional impairments.
Metabolites: Brachydactyly type D (BDD) is a genetic condition characterized by the shortening of the distal phalanges of the thumbs. There is no specific profile of metabolites associated with BDD because it primarily involves skeletal development rather than metabolic pathways. Therefore, there aren't any known metabolites directly associated with BDD.
Nutraceuticals: Brachydactyly type D, also known as short thumb brachydactyly, involves shortening of the distal phalanges of the thumbs. There are no specific nutraceuticals that have been proven effective for treating or managing brachydactyly type D.
Peptides: Brachydactyly type D (BDD) is a genetic condition characterized by the shortening of the thumbs due to the distal phalanges being unusually short and broad. This type of brachydactyly typically affects only the thumbs and is often referred to as "short thumb" or "clubbed thumb." It is inherited in an autosomal dominant manner, meaning only one copy of the affected gene is needed to exhibit the condition.

Regarding "peptides," there is no direct connection between peptides and the treatment or understanding of brachydactyly type D. Peptides are short chains of amino acids, and while they play crucial roles in various biological processes, there is no specific peptide treatment or diagnostic procedure related to BDD.

As for "nan," this term might indicate a silent treatment, abbreviation, or a typo. However, if "nan" refers to nanotechnology, there is currently no specific use of nanotechnology for directly addressing brachydactyly type D. Advances in medical technologies, including nanotechnology, may someday offer new insights or treatments for genetic conditions, but such applications are not currently established for BDD.