Brachydactyly types B and E combined

Brachydactyly is a medical term that refers to shortness of the fingers and toes due to underdevelopment of the bones in the hands and feet. There are many different types of brachydactyly, but this article will focus on types B and E.

Brachydactyly Type B

Brachydactyly type B (BDB) is a rare genetic disorder characterized by the shortening or absence of the middle phalanges. The terminal phalanges and nails may also be underdeveloped or absent. BDB is caused by mutations in the ROR2 gene, which is involved in bone and cartilage development.

Brachydactyly Type E

Brachydactyly type E (BDE) is characterized by shortening of the metacarpals, metatarsals, and/or phalanges. In some cases, the shortening is not uniform, leading to a condition known as asymmetrical brachydactyly. BDE can be caused by mutations in several genes, including HOXD13, PDE4D, and PRKAR1A.

Clinical Features

The clinical features of BDB and BDE can vary widely, even among individuals in the same family. In general, individuals with these conditions have short fingers and toes, but the severity and specific characteristics can differ. For example, some individuals may have missing or underdeveloped nails, while others may have normal nails.

Diagnosis

Diagnosis of BDB and BDE is typically based on physical examination and x-ray imaging of the hands and feet. Genetic testing can confirm the diagnosis and identify the specific gene mutation.

Treatment

There is currently no cure for BDB or BDE. Treatment is focused on managing symptoms and improving function. This may include physical therapy, occupational therapy, and in some cases, surgery.

See Also

• Genetic disorder
• Bone development
• Physical therapy

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