Femoral facial syndrome

Is femoral facial syndrome inherited?

The vast majority of cases of femoral facial syndrome (FFS) have been sporadic (not inherited), in people with no family history of FFS. Occurrence in more than one family member has been reported in three cases.

Last updated on 05-01-20

What is the long-term outlook for people with femoral facial syndrome?

The severity and specific symptoms in people with femoral facial syndrome (FFS) appear to vary among reported cases. Because of this, outlook and life expectancy are difficult to predict. While it has been reported that survival is normal, several cases of death before or shortly after birth have been described. There is limited published information available about adults with FFS.

Mobility in people with FFS varies depending on the severity of femoral hypoplasia. Femoral hypoplasia can vary from minimal shortening with minimal bowing to complete femoral agenesis (absence of the femur).

Last updated on 05-01-20

Selected Full-Text Journal Articles

Femoral facial syndrome

Burn J, Winter RM, Baraitser M, Hall CM, Fixsen J. The femoral hypoplasia- unusual facies syndrome. J Med Genet. 1984 Oct;21(5):331-40.

Last updated on 04-27-20

Name: Birth Defect Research for Children, Inc. 976 Lake Baldwin Lane, Suite 104
Orlando, FL, 32814, United States
Phone: +1-407-895-0802 Email: staff@birthdefects.org Url: https://www.birthdefects.org/

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