Choroba Eb

Choroba Eb: A Comprehensive Overview

Understanding Choroba Eb

Choroba Eb, also known as "split-hand/split-foot malformation", is a rare birth defect characterized by physical anomalies affecting the hands and feet. It is caused by a mutation in the TP63 gene, which plays a crucial role in limb development.

Individuals with Choroba Eb typically have hands and feet with a "cleft" or "split" appearance. The thumb and little finger may be separated, and the feet may have a similar division between the big toe and little toe. The severity of the condition can vary, ranging from mild to severe.

Symptoms of Choroba Eb

Hands:

• Cleft hand with separated thumb and little finger
• Absence or underdevelopment of the central fingers
• Short or absent metacarpal bones (bones in the palm)

Feet:

• Cleft foot with separated big toe and little toe
• Absence or underdevelopment of the central toes
• Short or absent metatarsal bones (bones in the midfoot)

Causes of Choroba Eb

Choroba Eb is caused by a mutation in the TP63 gene, which is responsible for limb development. The mutation leads to abnormal expression of TP63, disrupting the normal development of hands and feet.

In most cases, the mutation is inherited in an autosomal dominant manner. This means that only one copy of the mutated gene is needed to cause the condition. However, some cases may occur sporadically due to a new mutation.

Treatment of Choroba Eb

There is no cure for Choroba Eb, but treatment options can help improve functionality and aesthetics.

Surgery:

Surgical procedures can be performed to correct the clefts in the hands and feet, improve mobility, and enhance overall appearance.

Prosthetics:

Prosthetic devices, such as artificial limbs or braces, can assist with mobility and functionality in individuals with severe hand or foot anomalies.

Therapy:

Occupational or physical therapy can help improve coordination, strengthen muscles, and promote independence in performing daily activities.