Fibular Hemimelia

What is fibular hemimelia?

Fibular hemimelia is a rare birth defect that is characterized by a partially or completely missing fibula. One of every 40,000 births are affected by this condition, with the bilateral form being even rarer.

What are the symptoms of fibular hemimelia?

The major symptoms associated with fibular hemimelia are discrepancies in limb length and deformities of the knees, ankles, and feet. There may also be soft tissue deficiency, a shortened femur, bowed legs, a curved tibia, and other skeletal abnormalities such as syndactyly.

What causes fibular hemimelia?

Medical professionals are unsure as to what exactly causes this birth defect, although they have identified a number of genetic mutations that may be related. Despite the possible genetic causes of this condition, it is not passed down from parent to child.

How is fibular hemimelia diagnosed?

The diagnostic process for fibular hemimelia consists of a clinical examination and X-rays. In some cases, additional tests may be required to differentiate this birth defect from other conditions.

What are the treatments for fibular hemimelia?

Treatment depends on the severity of the birth defect, but it should always require a multidisciplinary team. In mild cases, special insoles or shoes may be used to correct limb length discrepancies, or a surgical procedure called epiphysiodesis could be used on the unaffected limb. In more severe cases, orthopedic treatment is required, with the most severe cases requiring limb amputation paired with a prosthetic limb.