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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Femoral facial syndrome


Other Names for this Disease
  • Femoral dysgenesis, bilateral
  • Femoral hypoplasia unusual facies syndrome
  • FFS
  • FHUFS
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Your Question

What is the prognosis for individuals with femoral facial syndrome, especially regarding mobility? What is the life expectancy for this condition? Can the condition be passed on to one's children?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is the prognosis and life expectancy for individuals with femoral facial syndrome?

The severity and signs and symptoms of femoral facial syndrome (FFS) appear to be very variable in the cases that have been published.[1] Due to the wide range of possible signs and symptoms an affected individual may have (and how severe each sign or symptom may be), including central nervous system abnormalities, prognosis and life expectancy are difficult to predict. Several cases of death in utero, or shortly after birth, have been reported; there is limited published information available about adults or long-term survival of individuals with FFS in the literature.[2]

In terms of mobility, in reported cases, femoral hypoplasia (underdevelopment of the femur) has varied from minimal shortening with minimal bowing to complete femoral agenesis (failure to develop); prognosis with regards to mobility would vary based on how severely the individual is affected.[2]
Last updated: 1/22/2011

Is femoral facial syndrome inherited?

The vast majority of cases of femoral facial syndrome (FFS) have been sporadic, not inherited. When a condition is sporadic, it means that it occurs in an individual who has no history of the condition in his/her family. Occurrence in more than one family member has been reported in three cases, but no sibling recurrences have been reported.[2][3] Maternal diabetes has been recognized as a major factor causing FFS in more than 20% of the reported cases.[3] The circumstances of the reported cases in the literature support non-genetic causes of FFS, such as teratogenic exposure.[2] It is theoretically possible that the cause could sometimes be a new gene mutation occurring in the affected individual, or autosomal dominant inheritance with reduced penetrance.[2]
Last updated: 1/22/2011

References