Proximal Femur Defect – Causes, Symptoms & Treatment

Proximal Femur Defect

The proximal femoral defect is a malformation in the upper part of the femur that occurs only very rarely. In most cases, the proximal femoral defect only shows up on one side of the body. The severity of the proximal femur defect can vary, from a slight shortening to a complete loss of the femur.

What is a Proximal Femoral Defect?

A common synonym for the proximal femoral defect is coxa vara . In English, the disease is known as proximal femoral focal deficiency , from which the generally accepted abbreviation PFFD is derived. In principle, the severity of the proximal femur defect varies greatly in the individual case.

While the exact prevalence of proximal femoral defect is not yet known, current estimates place the disease at approximately 2/1,000,000. In numerous cases, the proximal femoral defect occurs together with other pathological malformations in the patient.

It is particularly common for people suffering from a proximal femoral defect to also suffer from patellar aplasia , fibular hemimelia and knee instability. An association of the proximal femur defect with malformations of the feet and hypoplasia of the fibula and tibia is also possible.


At present, no reliable statements can be made regarding the causes and background to the development of the proximal femur defect. However, the majority of researchers agree that the proximal femoral defect is not an inherited disease. Instead, there are presumably certain external factors that lead to the development of the proximal femoral defect in the affected children.For example, there are studies relating to the substance thalidomide . They show that exposure of the expectant mother to this substance during the fifth or sixth week of pregnancy may cause a proximal femoral defect.

Symptoms, Ailments & Signs

The symptoms of the proximal femur defect depend heavily on the individual severity of the disease and thus on the individual case. A wide range is possible, from mild symptoms to severe impairments in people suffering from a proximal femoral defect. The traditional classification of the proximal femoral defect is based on radiological aspects and divides the disease into four forms.

There is either a bony connection between the head of the femur and the shaft or there is no such connection. In addition, it is possible that the femoral head is either partially or hardly present. The symptoms increase with increasing deformity of the femoral head. Using a more modern subdivision of the proximal femoral defect, the symptoms show up as a complete absence of the femur and damage to the pelvis.

An inadequate or non-existent connection between the femoral head and the shaft as well as malformations in the middle of the shaft with hypoplasia are also side effects. In some patients, the proximal femoral defect manifests itself in a coxa cara or a coxa valga and a hypoplastic femur.

Diagnosis & disease progression

The proximal femur defect is congenital, so that certain malformations are usually already evident at birth of the affected baby. As a result, the doctors order further examinations of the newborns in order to reach a diagnosis as quickly as possible. Orthopedists play an important role in diagnosing the proximal femur defect, using various clinical examination methods, usually in the presence of the guardians.

The most important are the externally visible signs of the malformation. Shortening of the leg on one side of the body is the most important symptom. Serious cases can be identified immediately after birth. Slight shortening may only appear in small children.

Doctors typically use imaging techniques to diagnose and determine the severity of the proximal femoral defect. X-ray technology is used as standard when examining the proximal femur defect . Here the specialist recognizes the bony structures in the area of ​​the femur.

In young children, the doctor usually uses sonographic methods of examination. What is also typical of the proximal femur defect and helpful for the diagnosis is that the muscles are hypoelastic in some cases. A differential diagnosis that distinguishes the proximal femoral defect from the femoral-facial syndrome and the Fuhrmann syndrome is important .


The complications that can arise from a proximal femoral defect depend on the extent of the malformation at the upper end of the femur. This also determines the difference in leg lengths. In most cases, the leg shortening is barely visible. Then there are usually no further complaints or complications. However, a severely shortened leg makes it difficult to stand and walk. The patient is limping.As a result, a curvature of the spine can develop. There is further postural damage to the spine, which can lead to permanent pain. The pain occurs either when you are resting or when you are exerting yourself. Overall, this also reduces the resilience of the affected children. In addition to the pain, children may also be subject to bullying and teasing. Both represent a significant psychological burden.

It is not uncommon for depression or other mental illnesses to develop as a result. Depression can even lead to suicidal tendencies. In many cases, bullying also leads to social exclusion. Affected children often withdraw and avoid social contacts. On this basis, other mental illnesses can also arise.

However, proper treatment can prevent many complications. Leg lengthening operations are usually not performed. These are often even dangerous or at least bring no improvement. In most cases, shoe lifts with special shoes and insoles are sufficient.

When should you go to the doctor?

In many cases, the proximal femoral defect can be identified immediately after birth. If the delivery takes place in an inpatient environment or if it is accompanied by an obstetrician, the initial examinations are automatically initiated by the attending nursing team. Therefore, the child’s parents do not need to take any action. You are advised to stay in close contact with the attending physicians in order to make the necessary decisions for the treatment and improvement of the child’s health as quickly as possible.

If visual abnormalities of the child’s physique only become apparent as the child continues to grow and develop, a doctor is needed. In particular, abnormalities of the thigh should be presented to a doctor for examination. Problems with locomotion, unsteady gait, limitations in general mobility or peculiarities of the movement sequences must be clarified by a doctor.

Pain, malpositions or incorrect posture, problems with the muscular system and hypersensitivity to touch must be examined and treated. In addition to physical deformities, this disease can lead to emotional or psychological abnormalities. A doctor’s visit is therefore also necessary if behavioral disorders, depressive phases or a severely reduced self-confidence appear. Withdrawal from social life, reduced well-being and abnormalities in social behavior should be discussed with a doctor or therapist.

Treatment & Therapy

The therapeutic measures depend on the individual symptoms or the severity of the proximal femoral defect. In mild forms of the proximal femur defect, orthoses, elevations in shoes with special soles and insoles , and prostheses usually provide relief. On the other hand, corrections or lengthening of the bones are not sensible options in the majority of cases, and they also involve considerable risks.

In the case of a shepherd’s crook deformity, an endoprosthesis is often implanted. Surgical intervention is already carried out on patients in the growth phase. In view of the rarity of the proximal femur defect, therapeutic measures must be carried out in suitable specialist centers.


The proximal femoral defect is congenital and therefore already defined at birth. The specific characteristics and severity of the defect are also already known. It is therefore not possible to effectively prevent the proximal femur defect. Therefore, appropriate therapeutic procedures are particularly important. Even slight malformations require appropriate treatment, since ignoring the malformation leads to long-term damage to the joints, for example.


Optimal follow-up care essentially depends on the type of previous treatment method. This requires a cross-therapy team that works together in a timely manner. If an operation has preceded it, regular X-ray examinations are essential. This is the only way to monitor a promising correction of the defect.

In addition to specialists from pediatrics and orthopedics, specialists from the fields of orthoses/prosthesis construction and fitting should also be involved in the aftercare. The regular use of an experienced physiotherapist is essential. At best, he has special training for this clinical picture. The focus of manual therapy is on maintaining joint mobility.

Hips, knees and feet are included. Attention is paid to maintaining spinal symmetry through appropriate muscle development. This is the only way to avoid the long-term consequences of incorrect loading. Physiotherapeutic follow-up care must be carried out at regular intervals in order to ensure that the previous therapy is maintained.

At best, this happens several times a week. Certain exercises are supplemented and continued by the parents or family members at home. This is done under the guidance of the respective therapist. Treatment with the appropriate follow-up care is not only time-consuming, but often also stressful for the patient and the family. It is therefore advisable to consider the support of a psychologist.

You can do that yourself

In patients with a proximal femur defect, care should be taken from a young age to ensure that their hips, knees and ankles become flexible and, if possible, remain flexible throughout their lives. Regular physiotherapy is recommended for this . The young patients may temporarily refuse this intensive therapy, but should be encouraged to keep their appointments.

To avoid back pain, the children should wear their braces as much as possible, even if they refuse them. Parents would do well to let their children play with the orthoses so that they lose their fear of orthopedic aids. Balancing gymnastics under the guidance of therapists or parents can prevent or have a balancing effect on an asymmetry of the spine. However, it should be carried out consistently several times a day. Overall, femoral defect patients benefit from stretching, stretching and muscle building exercises throughout their lives. In order to prevent the whole body from becoming imbalanced, the stomach and back in particular should be trained continuously.

Good miracle care is recommended after operations, as infections can quickly occur, especially in joints. These, in turn, often lead to painful, sometimes even irreversible, complications. To prevent this, the surgical wound should be kept sterile and its healing process checked regularly.

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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.