Limb Deficiency

Conditions

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Congenital limb deficiencies occur when one or multiple bones in the leg are is missing or not completely formed. Leg bones that can be deficient are the femur, tibia, and fibula.

Overall, the incidence of these is rare varying from 3 to 8 per 10,000 live births.

• Congenital fibular deficiency is the most common with an incidence of 1 per 10,000 live births.

• Congenital tibial deficiency is the rarest with an incidence of close to 1 in every million live births

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Patients can be seen by Texas Children's experts in Prenatal Counseling Clinic.

Causes & Risk Factors

The majority of cases are random occurrences in patients that have no family history. Tibial hemimelia may be inherited.

Symptoms & Types

Most patients have more than one segment of the lower limb involved.

Tibial Hemimelia (Short lower leg bone)

Foot deformity- abnormal position
Wrong number of toes
Knee is abnormal

Fibular Hemimelia (Short lower leg bone)

Short lower leg
Anteromedial tibial bowing
Dimple over bowed tibia
Femoral hypoplasia
Foot deformity/missing toes
Knee instability
Clubfoot

Femoral Hypoplasia (Short thigh bone)

Short thigh
Other portions of the leg may be abnormal

Diagnosis & Tests

Many patients are diagnosed with a congenital deficiency in utero (before birth) with ultrasound.

When this occurs, consultation with an orthopedic surgeon can be helpful for parental understanding of the diagnosis, although all questions cannot be answered until after birth and the child can be examined.

After birth, your orthopedic surgeon will use a physical exam, x-rays and MRI to help in the diagnosis and treatment.

Treatment & Care

Each patient needs individual treatment based on their specific bone(s) deficiency. This may include physical therapy, bracing, reconstructive surgery (lengthening of the short bone and angular deformity correction), amputation or use prosthetics.