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Femoral Facial Syndrome

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Copyright 1993, 2003

Synonyms of Femoral Facial Syndrome

Disorder Subdivisions

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.

Related Disorders

Symptoms of the following disorders can be similar to those of Femoral-Facial Syndrome. Comparisons may be useful for a differential diagnosis:

Camptomelic Syndrome is a rare congenital skeletal disorder that is inherited as an autosomal recessive genetic trait. It is characterized by short stature with bowing and an angular shape of the long bones of the legs. The bones of the pelvic and shoulder area are often abnormal. A flat face with widely spaced eyes and a small jaw may also be found in patients with Camptomelic Syndrome. (For more information on this disorder, choose "Camptomelic Syndrome" as your search term in the Rare Disease Database.)

Caudal Regression Syndrome is a rare disorder characterized by abnormal development of the tail (caudal) end region of the developing fetus. Abnormalities associated with this disorder may include partial absence of the tailbone (coccyx) and/or a wide range of developmental abnormalities involving the lower portion of the body. (For more information on this disorder choose "Caudal Regression Syndrome" as your search term in the Rare Disease Database.)

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

Femoral Facial Syndrome Resources

Organizations:

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.

Report last updated: 2008/03/04 00:00:00 GMT+0