Femoral Facial Syndrome

Femoral Facial Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Femoral Facial Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Femoral Dysgenesis, Bilateral
  • Femoral Dysgenesis, Bilateral-Robin Anomaly
  • Femoral Hypoplasia-Unusual Facies Syndrome

Disorder Subdivisions

  • None

General Discussion

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.

Symptoms

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:



Cleft palate

Femur absent/abnormal

Unusually small and/or retracted jaw (micrognathia/retrognathia)

Thin lips

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.

Causes

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.

Affected Populations

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.

Standard Therapies

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.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

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.



Buyce ML. Editor-in-Chief. Birth Defects Encyclopedia. Blackwell Scientific Publications. Center for Birth Defects Information Services, Inc., Dover, MA; 1990:681-82.



REVIEW ARTICLE

Baraitser M, Reardon W, Oley C, et al. Femoral hypoplasia unusual facies syndrome with preaxial polydactyly. Clin Dysmorphol. 1994;3:40-45.



JOURNAL ARTICLES

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.



Iohom G, Lyons B, Casey W. Airway management in a baby with femoral hypoplasia-unusual facies syndrome. Paediatr Anaesth. 2002;12:461-64.



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.

www.orpha.net/consor/cgi-bin/data/OC_SgnPat_data.php



McKusick VA, Ed. ONLINE MENDELIAN INHERITANCE IN MAN (OMIM). The Johns Hopkins University. Entry Number; 134780: Last Edit Date; 12/20/2002.

Resources

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Genetic and Rare Diseases (GARD) Information Center

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For a Complete Report

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