Femoral Facial Syndrome

Common Name(s)

Femoral Facial Syndrome

Femoral-facial syndrome is characterized by underdevelopment of the thigh bones and certain facial features, which may include upslanting eyes, short nose with a broad tip, long space between the nose and upper lip (philtrum), thin upper lip, small or underdeveloped lower jaw (micrognathia), and cleft palate. Symptoms may affect one or both sides of the face and limbs. Cleft palate has been reported only in females. Other signs and symptoms occur variably. Intellectual development has been reported as normal. In most cases the cause of the condition is unknown (sporadic). Some cases have been reported in association with diabetes during pregnancy (maternal diabetes). There have been rare reports (three cases) describing a family with more than one affected member.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Femoral Facial Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Femoral Facial Syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Femoral-facial syndrome in an infant of a diabetic mother.
 

Author(s): Saleem Ahmed, Saad Abdullah Alsaedi, Heidi Al-Wassia, Jumana Yousef Al-Aama

Journal:

 

Femoral-facial syndrome (FFS) is a very rare multiple congenital anomaly syndrome. The authors describe a case of FFS in a 2-day-old infant of a diabetic mother. The phenotypic features include bilateral symmetrical femoral involvement with completely aplastic right-sided femur, severely ...

Last Updated: 31 Dec 1969

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Lethal femoral-facial syndrome: a case with unusual manifestations.
 

Author(s): Y Gillerot, C Fourneau, T Willems, L Van Maldergem

Journal: J. Med. Genet.. 1997 Jun;34(6):518-9.

 

The femoral-facial syndrome is a very rare syndrome of uncertain inheritance comprising hypoplastic femora, microretrognathia, and a peculiar facies. We report an additional observation detected by ultrasound at 25 weeks and diagnosed at birth. In addition to the malformations usually ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Femoral Facial Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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