Brachydactyly type A4
Brachydactyly type A4 (pronounced: brak-ee-dak-til-ee type A4), also known as Temtamy preaxial brachydactyly syndrome, is a rare genetic disorder characterized by the shortening of digits in the hands and feet.
Etymology
The term "Brachydactyly" is derived from the Greek words "brachys" meaning short, and "daktylos" meaning finger. The term "type A4" is a classification within the Brachydactyly spectrum, indicating the specific type of digit shortening present in this condition.
Symptoms
Individuals with Brachydactyly type A4 typically have shortened or absent metacarpals and/or phalanges (the bones in the fingers and toes). This can result in the appearance of having fewer than five fingers or toes on each hand or foot. Other symptoms may include syndactyly (webbing or fusion of the fingers or toes), and clinodactyly (curved fingers or toes).
Causes
Brachydactyly type A4 is caused by mutations in the BMPR1B or GDF5 genes. These genes are involved in the formation and development of bones and cartilage.
Diagnosis
Diagnosis of Brachydactyly type A4 is typically made through a physical examination and confirmed through genetic testing. X-rays may also be used to visualize the extent of digit shortening.
Treatment
There is currently no cure for Brachydactyly type A4. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and in some cases, surgical intervention to improve function and appearance.
See also
External links
- Medical encyclopedia article on Brachydactyly type A4
- Wikipedia's article - Brachydactyly type A4
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