Brachydactyly type A6

= = Brachydactyly Type A6 == Brachydactyly Type A6 is a rare genetic disorder characterized by the shortening of the middle phalanges of the fingers. This condition is part of a group of disorders known as brachydactyly, which involves the abnormal shortening of the digits due to underdevelopment of the bones.

Clinical Features

Individuals with Brachydactyly Type A6 typically present with:

• Shortened middle phalanges of the fingers.
• Normal development of the thumb and other phalanges.
• Possible involvement of the toes, although this is less common.

The condition is usually identified at birth or during early childhood when the shortened fingers become apparent.

Genetics

Brachydactyly Type A6 is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. The specific gene mutation responsible for this type of brachydactyly has not been definitively identified, but it is believed to involve genes that regulate bone growth and development.

Diagnosis

Diagnosis of Brachydactyly Type A6 is primarily based on clinical examination and radiographic findings. X-rays of the hands can reveal the characteristic shortening of the middle phalanges. Genetic testing may be used to confirm the diagnosis and to differentiate it from other types of brachydactyly.

Differential Diagnosis

Brachydactyly Type A6 should be differentiated from other types of brachydactyly, such as:

• Brachydactyly Type A1
• Brachydactyly Type B
• Brachydactyly Type C

Each type has distinct clinical and radiographic features that help in the differentiation.

Management

There is no specific treatment for Brachydactyly Type A6. Management focuses on addressing any functional impairments or cosmetic concerns. Occupational therapy may be beneficial in improving hand function.

Prognosis

The prognosis for individuals with Brachydactyly Type A6 is generally good, as the condition does not typically affect overall health or life expectancy. However, the degree of functional impairment can vary depending on the severity of the phalangeal shortening.

Research

Ongoing research aims to better understand the genetic basis of Brachydactyly Type A6 and to explore potential therapeutic interventions. Advances in genetic testing and molecular biology may provide further insights into the pathogenesis of this condition.

NIH genetic and rare disease info

• NIH info on Brachydactyly type A6

Brachydactyly type A6 is a rare disease.