brachydactyly type A2

Brachydactyly type A2, also known as Mohr-Wriedt type, is a rare genetic disorder characterized by malformations of the middle phalanx of the index finger and anomalies of the second toe.

Key Features:

• Shortening of the middle phalanges of the index finger and sometimes the fifth finger
• Triangular appearance on radiographs (X-rays)
• Hypoplasia/aplasia of the second middle phalanx of the index finger

Inheritance Pattern: Brachydactyly type A2 is an autosomal dominant disorder, meaning that a single copy of the mutated gene is enough to cause the condition. This means that if one parent has the condition, each child has a 50% chance of inheriting it.

Other Information:

• Brachydactyly type A2 does not typically require surgery and affected individuals can use their hands normally.
• The condition is caused by mutations in the BMPR1B or GDF5 genes.
• It is essential to consult with a healthcare professional for medical advice and proper diagnosis.

References:

[1] (result 3) Brachydactyly type A2 is an autosomal dominant disorder characterized by malformations of the middle phalanx of the index finger and by anomalies of the second toe (summary by Su et al., 2011).

[4] brachydactyly type A2. The information provided on this page is for informational purposes only.

[6] Brachydactyly type A2 is an autosomal dominant disorder characterized by malformations of the middle phalanx of the index finger and anomalies of the second toe.

[9] Brachydactyly type A2 is an autosomal dominant disorder characterized by malformations of the middle phalanx of the index finger and by anomalies of the second ...

[13] Brachydactyly type A2 is an autosomal dominant disorder characterized by malformations of the middle phalanx of the index finger and by anomalies of the second toe (summary by Su et al., 2011).

Common Signs and Symptoms of Brachydactyly Type A2

Brachydactyly type A2 is a rare condition characterized by the shortening or absence of the middle phalanx in the index finger and the second toe. The following are common signs and symptoms associated with this condition:

• Shortened middle bones: The most distinctive feature of brachydactyly type A2 is the presence of very short (hypoplastic) middle bones in the index finger and the second toe.
• Misshapen fingers and toes: In some individuals, the bone above the middle phalanx (distal phalanx) may be shifted, resulting in misshapen fingers and toes.
• Normal function: Despite the physical appearance of brachydactyly type A2, affected individuals are typically able to use their hands and feet normally without any functional impairment.

References:

• [10] Typically, Brachydactyly type A2 does not require surgery, and affected individuals are able to use their hands normally.
• [11] Typically, people affected by brachydactyly type A2 have very short (hypoplastic) middle bones of these digits. In some individuals, the bone above the middle phalanx (distal phalanx) is shifted as well, so that the fingers and toes may look misshapen.
• [15] Brachydactyly type A2 is a very rare condition affecting the middle bone (middle phalanx) of the index finger and the second toe.

Based on the provided context, here are some diagnostic tests that may be relevant for brachydactyly type A2:

• Physical examination: A thorough physical examination by a qualified healthcare professional is essential to confirm the presence of brachydactyly type A2. The doctor will examine the hands and fingers to assess the degree of shortening and any other associated features.
• X-rays: X-ray imaging can help determine the extent of bone shortening in individuals with brachydactyly type A2. This can be particularly useful

Treatment Options for Brachydactyly Type A2

Brachydactyly type A2, a rare genetic disorder affecting the middle phalanx of the index finger and sometimes the little finger, typically does not require surgical treatment. According to search results [13], the shortening of the middle phalanges is usually confined to the index finger and possibly the little finger, making surgical intervention rarely necessary.

However, when surgery is considered, it's essential to note that it can worsen the clinical situation by causing additional shortening [14]. Therefore, treatment options for brachydactyly type A2 are generally conservative, focusing on managing symptoms rather than correcting the underlying bone deformity.

Current Treatment Landscape

As of my knowledge cutoff in 2024, there is limited information available on specific drug treatments for brachydactyly type A2. However, search results [12] suggest that quantitative data and detailed annotation of targets of licensed and experimental drugs are being explored. Unfortunately, no concrete treatment options or medications have been identified as effective for this condition.

Future Directions

Further research is needed to understand the underlying causes of brachydactyly type A2 and

Based on the provided context, it appears that Brachydactyly type A2 has a differential diagnosis with other conditions that affect short digits.

• Pseudohypoparathyroidism (PHP) is mentioned as one of the differentials for other causes of short digits in search result 5.
• The text from search result 4 also mentions that Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome, which may include other conditions that affect short digits.

However, it's worth noting that the context does not provide a comprehensive list of differential diagnoses for Brachydactyly type A2. Therefore, I will only mention what is explicitly stated in the provided search results.

The differential diagnosis for Brachydactyly type A2 may include:

• Pseudohypoparathyroidism (PHP) [5]
• Other conditions that affect short digits as part of a complex malformation syndrome [4]

Please note that this list might not be exhaustive, and further research or consultation with medical professionals would be necessary to determine the complete differential diagnosis for Brachydactyly type A2.