Brachymesophalangy 2 and 5

Brachymesophalangy 2 and 5 is a rare genetic disorder characterized by the shortening or absence of the second and fifth metacarpal bones in the hands and feet. This condition is also known as Brachymesophalangy with Nystagmus and without Mental Retardation.

Etiology

The exact cause of Brachymesophalangy 2 and 5 is unknown. However, it is believed to be a genetic disorder, possibly inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the disorder to each of their offspring.

Symptoms

The primary symptom of Brachymesophalangy 2 and 5 is the shortening or absence of the second and fifth metacarpal bones in the hands and feet. This can result in a variety of physical abnormalities, including clinodactyly (curved fingers or toes), syndactyly (fused fingers or toes), and polydactyly (extra fingers or toes). Some individuals may also exhibit nystagmus, a condition characterized by involuntary eye movements.

Diagnosis

Diagnosis of Brachymesophalangy 2 and 5 is typically made through a combination of physical examination and radiographic imaging. The characteristic shortening or absence of the second and fifth metacarpal bones can often be seen on X-ray images.

Treatment

There is currently no cure for Brachymesophalangy 2 and 5. Treatment is typically focused on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, and in some cases, surgical intervention to correct physical abnormalities.

See also

• List of genetic disorders
• Metacarpal bones
• Nystagmus