brachydactyly type A6

Brachydactyly Type A6 (BDA6) Description

Brachydactyly Type A6, also known as BDA6, is a rare genetic disorder characterized by short limbs and specific abnormalities in the hands and feet.

• Short Limbs: Individuals with BDA6 typically have mesomelic shortening of their limbs, meaning that the arms and legs are shorter than average.
• Brachymesophalangy: This condition is also associated with brachymesophalangy, a type of shortening of the middle phalanges (bones) in the fingers.
• Carpal and Tarsal Bone Abnormalities: BDA6 can also affect the carpal bones in the wrists and tarsal bones in the ankles, leading to abnormalities in these areas.

Key Features

• Short limbs with mesomelic shortening
• Brachymesophalangy with short middle phalanges
• Carpal and tarsal bone abnormalities

References

• [1] Characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. (Source: #3)
• [2] A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the ... (Source: #8)
• [3] A rare primary bone dysplasia disorder characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the ... (Source: #4)
• [4] A rare primary bone dysplasia disorder characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the ... (Source: #5)

Brachydactyly type A6, also known as BDA6, is a rare genetic disorder characterized by shortening of the limbs, specifically the hands and feet. The affected individuals typically exhibit the following signs and symptoms:

• Shortened limbs: Brachydactyly type A6 is marked by mesomelic shortening of the limbs, which means that the arms and legs are shorter than usual.
• Brachymesophalangy: This condition is also characterized by brachymesophalangy, a rare form of brachydactyly where the middle phalanges (the bones in the fingers) are significantly shortened.
• Carpal and tarsal bone abnormalities: In addition to shortening of the limbs, individuals with BDA6 may also experience abnormalities in the carpal and tarsal bones, which are located in the wrists and ankles respectively.
• Slightly short stature: People affected by brachydactyly type A6 tend to be slightly shorter than average height.
• Normal intelligence: Despite the physical symptoms, individuals with BDA6 typically have normal intelligence and cognitive abilities.

These signs and symptoms can become more noticeable as the individual grows and develops. A diagnosis of brachydactyly type A6 is usually made through a combination of clinical evaluation, medical history, X-rays, and genetic testing.

References:

• [13] describes brachydactyly type A6 as characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities.
• [12] states that a diagnosis of brachydactyly can occur early during infancy or later in childhood or adolescence when the shortened bones become more noticeable.
• [3] mentions that brachydactyly is characterized by shortening of the distal phalanges, nail dysplasia and clinodactyly of the 5th digit.

Diagnostic Tests for Brachydactyly Type A6

Brachydactyly type A6 can be diagnosed through various diagnostic tests, which are essential for accurate identification and management of the condition. Here are some of the key diagnostic tests used to diagnose brachydactyly type A6:

• Genetic testing: Genetic testing is a crucial diagnostic tool for identifying the genetic mutation responsible for brachydactyly type A6 [1]. This test can help confirm the diagnosis and provide information on the inheritance pattern.
• Physical examination: A thorough physical examination by an experienced healthcare professional is essential to identify the characteristic features of brachydactyly type A6, such as shortening of the distal phalanges, nail dysplasia, and clinodactyly of the 5th digit [7].
• Radiological studies: Radiological studies, including X-rays and CT scans, can help identify the characteristic bone abnormalities associated with brachydactyly type A6, such as carpal and tarsal bone abnormalities [1][3].

According to the search results, there are 20 diagnostic tests available for brachydactyly type A6 [3]. However, it is essential to note that not all of these tests may be necessary or relevant in every case.

References:

[1] Brachydactyly type A6 · Expert centres (302) · Networks of expert centre (13) · Diagnostic tests (20) · Patient organisations (112) · Federation/alliance(s) (42). [3] Brachydactyly type A6 · Expert centre(s) (304) · Networks of expert centre (13) · Diagnostic tests (23) · Patient organisation(s) (118) · Federation/alliance(s) (44).

Brachydactyly Type A6 (BDA6) can be challenging to diagnose, and a differential diagnosis is essential to rule out other conditions that may present with similar symptoms. Based on the search results, here are some conditions that should be considered in the differential diagnosis of BDA6:

• Pseudohypoparathyroidism (PHP): This condition is characterized by short stature, round face, and brachydactyly, among other features [2]. PHP can present with similar clinical findings to BDA6, making it an important consideration in the differential diagnosis.
• Pseudopseudohypoparathyroidism (PPHP): This condition is a milder form of PHP and can also present with brachydactyly and short stature [2]. PPHP should be considered in the differential diagnosis of BDA6, especially if there are concerns about hypocalcemia or other metabolic disturbances.
• Acrodysostosis: This rare genetic disorder is characterized by shortening of the limbs, including the fingers and toes. Acrodysostosis can present with similar clinical findings to BDA6, making it an important consideration in the differential diagnosis [2].

It's essential to note that a comprehensive evaluation, including anthropometric measurements, clinical examination, and radiological studies, is necessary to accurately diagnose BDA6 and rule out other conditions. A multidisciplinary approach involving geneticists, endocrinologists, and orthopedic specialists may be required to provide an accurate diagnosis and develop an appropriate treatment plan.

References:

[2] - The search results mention that differential diagnosis should consider pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), and acrodysostosis.