Brachydactyly type A3
Brachydactyly type A3, also known as Brachydactyly-Polydactyly Imperfecta or BDA3, is a rare genetic disorder characterized by the shortening of the middle bones of the fingers and toes (metacarpals/metatarsals) and the presence of extra digits (polydactyly).
Overview[edit | edit source]
Brachydactyly type A3 is one of the several types of brachydactyly, which are all part of the larger group of diseases known as congenital skeletal abnormalities. The condition is inherited in an autosomal dominant manner, meaning that an affected person has a 50% chance of passing the disorder to each of their children.
Symptoms[edit | edit source]
The primary symptom of Brachydactyly type A3 is the shortening of the middle bones of the fingers and toes. This can result in the affected digits appearing unusually short and stubby. In some cases, the condition may also cause the presence of extra digits, a condition known as polydactyly.
Diagnosis[edit | edit source]
Diagnosis of Brachydactyly type A3 is typically made based on a physical examination and the patient's medical and family history. In some cases, genetic testing may be used to confirm the diagnosis.
Treatment[edit | edit source]
There is currently no cure for Brachydactyly type A3. Treatment is typically focused on managing the symptoms of the condition and may include physical therapy, occupational therapy, and in some cases, surgical intervention.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Brachydactyly type A3 is a rare disease.
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