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Femur Fibula Ulna Syndrome - Symptoms, Diagnosis, and Treatment

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Femur fibula ulna syndrome is a congenital limb malformation syndrome characterized by the combination of congenital anomalies of the femur, fibula, and ulna.

Written byDr. Sameeha M S

Medically reviewed byDr. Anuj Gupta

Published At March 13, 2023
Reviewed AtMay 13, 2024

Introduction

Femur fibula ulna syndrome (FFU) is a very rare syndrome characterized by abnormalities in the femur (thigh bone), fibula (calf bone), and ulna (hand bone). In this syndrome, the upper limbs are more frequently affected than the lower limbs, and the right side is more affected than the left. Lenz and Feldman discovered femur fibula ulna syndrome in 1977.

What Is Femur Fibula Ulna Syndrome?

Femur fibula ulna syndrome is a sporadic disorder characterized by defects of the femur, fibula, or ulna. Lenz et al. reported an analysis of 491 FFU syndrome cases in 1993. They discovered that the main characteristics include a striking asymmetry in the presence and severity of limb malformations. These malformations are more common unilaterally than bilaterally, and there is a preference for the upper limbs, the right side, and the male sex. Sometimes, this syndrome is associated with PFFD (proximal femoral focal deficiency).

What Causes Femur Fibula Ulna Syndrome?

The femur fibula ulna (FFU) syndrome is a relatively uncommon sporadic syndrome. Its cause is unknown, and familial occurrence is extremely uncommon. There is no evidence for parental consanguinity, specific environmental causes, or the effect of maternal or paternal age on the FFU syndrome. Its prevalence is estimated to be one in every 100,000 live births. However, a very low number of cases have been reported, and the exact etiology and causative factors for this syndrome still need to be identified.

What Are the Symptoms Associated With Femur Fibula Ulna Syndrome?

  • Abnormalities of the Ulna - The ulna is the longest of the two forearm bones. It aids in the movement of the arm, wrist, and hand. The ulna also supports many important muscles, ligaments, tendons, and blood vessels. Children born with congenital ulnar defects have their wrists fixed and bent toward the little finger side of the hand. Fingers and thumbs may be affected as well. Other hand muscles and nerves may be out of balance or absent. This is also known as ulnar dysplasia or ulnar club hand.

  • Split Hand - A condition in which the middle fingers and metacarpals of the hand (middle portion) are missing, giving a hand a cleft appearance. The severity ranges from slightly hypoplastic middle fingers to missing middle fingers and oligo- or monodactyl hands.

  • Micromelia - It is characterized by abnormally small and poorly developed extremities. The affected individuals usually have small extremities and limbs that are smaller or shorter than average.

  • Finger Syndactyly - Children with syndactyly are born with fused or webbed fingers. The failure of the fingers to differentiate into separate appendages occurs due to failure of differentiation. Finger webbing or fusion only affects the soft tissues or bone structure. Bony fusions are called bony syndactyly if the fusion occurs along a radio-ulnar axis. Symphalangism refers to the proximo-distal axis-based fusion of the finger bones.

  • Short Stature - An individual is considered short stature if their height is lower than expected for age and gender. Although there is no universally recognized definition of short stature, many people define it as a height more than two standard deviations below the average for age and gender (or below the 3rd percentile for age and gender-dependent norms).

  • Elbow Abnormalities -The elbow is the area surrounding the elbow joint, located between the arm and the forearm. Those who are affected frequently have an abnormality in the joint connecting the upper and lower arms.

  • Short Humerus - The humerus is the longest bone in the upper extremity and is responsible for defining the arm. Patients typically have short upper arms and underdeveloped humerus.

  • Humeroradial Synostosis - This is a rare osseous fusion of the radius and humerus.

  • Hypoplasia of the Radius - Ulna and radius are two forearm bones. A small or hypoplastic radius is usually seen in femur fibula ulna syndrome.

  • Abnormal Femur Morphology - The femur is the strongest and longest bone in the body. Femur fibula ulna syndrome usually presents with femoral structure anomaly.

How to Diagnose Femur Fibula Ulna Syndrome?

Clinical symptoms and radiographic features can help diagnose femur fibula ulna syndrome. Ultrasonography can also be used to make a prenatal diagnosis. Diagnostic imaging techniques include X-rays, CT (computed tomography), and MRI (magnetic resonance imaging).

What Are the Treatment Options for Femur Fibula Ulna Syndrome?

Treatment options for femur fibula ulna syndrome are determined based on the clinical symptoms. It includes amputation of the foot or a portion of the leg, femur lengthening, extension prostheses, or custom shoe lifts, depending on the severity of the deformities. However, a standard treatment plan for this syndrome has yet to be developed due to the rare number of reported cases.

Conclusion

Femoral fibula ulna syndrome (FFU) is an extremely rare congenital disease characterized by an asymmetric combination of several defects. These defects typically affect one side of the body, usually the thigh bone (femur), calf bone (fibula), and ulna. However, a standard treatment plan for this syndrome has not been developed because of the relatively low number of reported cases.

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Frequently Asked Questions

The femur is the longest and strongest bone in the human body. It is in the thigh region and extends from the hip to the knee joint. The upper end of the femur forms part of the hip joint, connecting to the pelvic bone, while the lower end forms part of the knee joint, connecting to the tibia and patella (kneecap). The tibia is also known as the shinbone. It is one of the two bones in the lower leg and the fibula. The tibia is the larger and weight-bearing bone of the two. It runs parallel to the fibula and is located on the leg's medial (inner) side. The upper end of the tibia forms part of the knee joint with the femur, and the lower end articulates with the ankle bone (talus) to form the ankle joint.
In the initial stages of recovery, assistive devices like crutches, a walker, or a cane are recommended to help support the weight and maintain balance while walking. These devices can take the pressure off the fractured leg and aid in proper healing. Initially, full weight-bearing on the injured leg might not be possible. The doctor will likely advise on the appropriate weight-bearing capacity during walking. Significant injuries or prolonged immobility can lead to an impact on the walking pattern (gait). In such cases, physical therapy might be needed to retrain the gait and enhance walking mechanics.
Having a very long ulna bone can lead to a condition known as ulna impaction syndrome or ulnar impaction syndrome. This occurs when the ulna bone, one of the two long bones in the forearm (the other being the radius), is abnormally longer than the radius.
The radius and ulna are the two bones in the forearm, located between the elbow and wrist joints. The radius is on the forearm's lateral (thumb) side, and the ulna is on the medial (pinky finger) side. The tibia and fibula are the two bones in the lower leg between the knee and ankle joints. The tibia is the larger and weight-bearing bone situated on the lower leg's medial (inner) side. At the same time, the fibula is smaller and located on the lateral (outer) side of the lower leg.
For minor or stable fractures, it is recommended to immobilize the leg using a cast, splint, or brace. Immobilization helps keep the bone in place, allowing it to heal correctly.  Surgery may be necessary if the fracture is severe, displaced, or involves other nearby structures. Surgical procedures may involve using metal plates, screws, or rods to stabilize the bone and promote proper healing.
Yes, the fibula is considered a non-weight-bearing bone in the lower leg. The primary weight-bearing bone in the lower leg is the tibia. The fibula is a slender bone on the lower leg's lateral (outer) side. It runs parallel to the tibia but is not directly involved in bearing the body's weight. Instead, the fibula provides structural support and acts as a site for muscle attachments, contributing to the stability and function of the lower leg.
No, the fibula bone does not directly articulate with the femur. The femur and fibula are bones located in different regions of the leg and do not form a joint with each other.
Neither the ulna nor the fibula is primarily responsible for bearing the body's weight. In the forearm, the ulna is a non-weight-bearing bone, while the tibia, the larger bone in the lower leg, is the primary weight-bearing bone. Both bones serve as attachment sites for muscles involved in their respective regions' movement and function. The forearm and lower leg muscles attach to the ulna and fibula, respectively, allowing for controlled movement.
The treatment of a femur fracture typically involves various approaches, but medication is primarily used for pain management and to prevent infection. Pain management is essential in the early stages of a femur fracture to help alleviate discomfort. Over-the-counter or prescription pain relievers, such as acetaminophen, nonsteroidal anti-inflammatory drugs (NSAIDs) like ibuprofen, or stronger pain medications like opioids may be prescribed.
Emergency management of a femur fracture involves immediate actions to stabilize the injury and provide the initial care before the person can receive comprehensive medical treatment. Encourage the injured person to remain as still as possible to prevent further damage to the fractured bone and surrounding tissues.  Apply a cold pack or ice wrapped in a cloth to the injured area if available. Ice can help reduce swelling and ease pain.  If an open wound is bleeding, apply gentle pressure with a clean cloth to control bleeding while avoiding unnecessary movement. 
Some structures of the femur are not visible from the posterior view due to their location and orientation. One such structure that cannot be seen from the posterior view is the head of the femur. The femoral head is the rounded, ball-shaped part of the bone that articulates with the hip socket (acetabulum) to form the hip joint.
The part of the femur that articulates with the tibia is the distal end of the femur. Specifically, the two rounded condyles at the bottom of the femur, known as the medial and the lateral condyle, articulate with the corresponding surfaces of the tibia bone to form the knee joint.
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Dr. Anuj Gupta from iCliniq
Dr. Anuj Gupta

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