Limb Deficiency


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.

Living & Managing

Family support groups may be helpful.

Ask your surgeon if she has patients with similar problem that you can meet or talk with.

TCH Physicians who treat congenital deficiencies

Hill, Jaclyn

Antekeier, Shannon

Antekeier, David

Shenava, Vinitha

Horowitz, Kevin

Related Topics

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