What are the other Names for this Condition? (Also known as/Synonyms)

• PFFD (Proximal Femoral Focal Deficiency)
• Proximal Femoral Focal Deficiency (PFFD)

What is Congenital Short Femur? (Definition/Background Information)

• Congenital Short Femur is a rare type of skeletal dysplasia, a complex group of bone and cartilage disorders that affect the skeleton of a fetus as it develops during pregnancy
• Congenital Short Femur can vary in severity, ranging from hypoplasia (underdevelopment) of the femur to absence of the femur. With modern surgery techniques and expertise, lengthening the shortened femur may be an option for some patients
• However surgical lengthening of the femur remains a challenging procedure with risks for complications

(Source: Congenital Short Femur; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Congenital Short Femur? (Age and Sex Distribution)

• Congenital Short Femur is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Congenital Short Femur? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Congenital Short Femur

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Congenital Short Femur? (Etiology)

The exact cause of development of Congenital Short Femur is presently unknown.

What are the Signs and Symptoms of Congenital Short Femur?

• Difference in length between the two lower limbs

(Source: Congenital Short Femur; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Congenital Short Femur Diagnosed?

Congenital Short Femur is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Congenital Short Femur?

The complications of Congenital Short Femur may include:

• Walking difficulties
• Reduced quality of life

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Congenital Short Femur Treated?

• With modern surgery techniques and expertise, lengthening the shortened femur may be an option for some patients with Congenital Short Femur
• However surgical lengthening of the femur remains a challenging procedure with risks for complications

(Source: Congenital Short Femur; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Congenital Short Femur be Prevented?

• Currently, Congenital Short Femur may not be preventable, since the cause of the disorder is unknown.
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Congenital Short Femur? (Outcomes/Resolutions)

• The prognosis of Congenital Short Femur is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Congenital Short Femur:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/