Femoral-Facial Syndrome is a rare disorder that occurs randomly (sporadically) in the population. There have been, however, two cases reported in which the disorder appeared to be inherited as an autosomal dominant genetic trait. The major symptoms of this disorder are underdeveloped thigh bones (femurs) 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, of which three are classified as very frequent and another ten are described as frequent.
Those clinical signs characterized as very frequent or frequent are:
Unusually small and/or retracted jaw (micrognathia/retrognathia)
Long vertical groove in the middle of the upper lip (philtrum)
Small or virtually absent ears (microtia/anotia)
Upwardly slanting eyelids (upslanted fissures)
Fused bones of the spine (sacrum and coccyx)
Deformation of the foot that may be turned outward or inward (talipes-varus/valgus)
Short limbs (micromelia)
Short stature (dwarfism)
Low-set and poorly formed ears
Abnormal vertebral size or shape.
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 two reported cases of affected relatives that are thought to have been inherited as an autosomal dominant genetic trait.
Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.
Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.
Femoral-Facial Syndrome is a very rare disorder that seems to affect more males than females. As of 1993, about 55 cases had been reported. One-third of cases 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 of cleft palate 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 may be of benefit for patients and their families. Other treatment is symptomatic and supportive.
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Pryde PG, Zelop C, Pauli RM. Prenatal diagnosis of isolated femoral bent bone skeletal dysplasia: problems in differential diagnosis and genetic counseling. Am J Med Genet. 2003;117A:203-06.
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Gillerot Y, Fourneau C, Willems T, et al. Lethal femoral-facial syndrome: a case with unusual manifestations. J Med Genet. 1997;34:518-19.
Hinson RM, Miller RC, Macri CJ. Femoral hypoplasia and maternal diabetes: consider femoral hypoplasia/unusual facies syndrome. Amer J Perinatol. 1996;13:433-36.
Robinow M, Sonek J, Buttino L, et al. Femoral-facial syndrome – prenatal diagnosis – autosomal dominance inheritance. Am J Med Genet. 1995;57:397-99.
FROM THE INTERNET
Femoral facial syndrome. Orphanet. List of clinical signs. nd. 1p.
McKusick VA, Ed. ONLINE MENDELIAN INHERITANCE IN MAN (OMIM). The Johns Hopkins University. Entry Number; 134780: Last Edit Date; 12/20/2002.
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