NORD gratefully acknowledges Cyril Boulila, MD Candidate, McGill University School of Medicine and Dr. Malte Spielmann, Max Planck Institute for Molecular Genetics, Berlin, Germany, for assistance in the preparation of this report.
Femoral facial syndrome is a rare disorder that occurs randomly (sporadically) in the population. There have been, however, two patients reported in which the disorder appeared to be inherited in an autosomal dominant pattern. The major symptoms of this disorder are underdeveloped thigh bones (femoral hypoplasia) and unusual facial features.
Femoral facial syndrome is a rare disorder characterized by underdeveloped thigh bones (femurs) and unusual facial characteristics. It presents with a very broad range and variety of symptoms. One source lists 31 clinical signs, classified as very frequent, relatively frequent and less frequent.
Clinical signs characterized as very frequent are (80-99%):
– Cleft palate
– Femur absent/abnormal
– Unusually small and/or retracted jaw (micrognathia/retrognathia)
– Short limbs (micromelia, femur especially)
– Abnormal vertebral size or shape
Clinical signs characterized as relatively frequent are (20-30%):
– Upwardly slanting eyelids (upslanted fissures)
– Thin lips + Long vertical groove in the middle of the upper lip (philtrum)
– Low-set and poorly formed ears / Small or virtually absent ears (microtia/anotia)
– Fused bones of the spine (sacrum and coccyx)
– Short stature (dwarfism)
– Hip dysplasia
– Femoral neck anomaly (coxa vara)
– Abnormal fibula morphology
– Deformation of the foot that may be turned outward or inward (talipes-equinovarus)
– Extra toes (preaxial foot polydactyly)
– Maternal diabetes
Clinical signs characterized as less frequent are (5-29%):
– Cross sided eyes (strabismus)
– Sprengel anomaly
– Rib fusion
– Radius and ulna bone fusion (radioulnar synostosis)
– Underdeveloped kidneys (renal hypoplasia)
– Kidney function anomaly (polycystic kidney dysplasia)
– Enlarged penis
– Enlarged heart ventricles (ventriculomegaly)
The exact cause of femoral facial syndrome is not known. Most cases of this disorder occur for no apparent reason (sporadically). However, there have been at least two reported cases of affected relatives that are thought to have been inherited as an autosomal dominant pattern.
Dominant genetic disorders occur when only a single copy of a non-working gene is necessary to cause a particular disease. The non-working gene can be inherited from either parent or can be the result of a mutated (changed) gene in the affected individual. The risk of passing the non-working gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.
In addition, a significant number of reported patients seem to show an association with diabetes in the mother during pregnancy.
Femoral facial syndrome is a very rare disorder that seems to affect more males than females. As of 1993, about 55 patients had been reported and one-third of are associated with maternal diabetes.
Orthopedic medical care including surgery may help alleviate some of the more serious bone deformities associated with femoral facial syndrome.
Treatment requires the coordinated efforts of a team of specialists. Pediatricians, dental specialists, surgeons, speech pathologists and others may systematically and comprehensively plan the child’s treatment and rehabilitation. Cleft palate may be repaired by surgery or covered by an artificial device (prosthesis) that closes or blocks the opening in the roof of the mouth.
Genetic counseling is recommended for patients and their families. Other treatment is symptomatic and supportive.
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Campbell Jr, RM. NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:712-13.
Jones KL. Ed. Smith’s Recognizable Patterns of Human Malformation. 5th ed. W. B. Saunders Co., Philadelphia, PA; 1997:310-11.
Buyse ML. Editor-in-Chief. Birth Defects Encyclopedia. Blackwell Scientific Publications. Center for Birth Defects Information Services, Inc., Dover, MA; 1990:681-82.
Luisin M, Chevreau J, Klein C, et al. Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review. Am J Med Genet A. 2017 Nov;173(11):2923-2946. https://www.ncbi.nlm.nih.gov/pubmed/28948695
Spielmann M, Marx S, Barbi G, et al. Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement. Am J Med Genet A. May, 2016; 170A(5):1202-1207. https://www.ncbi.nlm.nih.gov/pubmed/26822876
Femoral-facial syndrome. Orphanet. Last update: July 2009. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1988. Accessed August 18, 2020.
Femoral-facial syndrome. OMIM. Updated 01/08/2019. https://omim.org/entry/134780 Accessed August 18, 2020.
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