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Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.
ORPHA:1988Classification level: Disorder
To date, 55 cases have been reported in the literature.
Facial features include upslanting palpebral fissures, short nose with broad tip, long philtrum, thin upper lip, micrognathia and cleft palate. The complete syndrome with cleft palate has been reported only in females. The following associated anomalies may be present: vertebral segmentation defects, preaxial polydactyly, ear defects, genitourinary tract abnormalities, lung hypoplasia, dysplastic kidneys, patent arterial duct (see this term). Intellectual development has been reported normal. In two patients, central nervous system anomalies (corticosubcortical atrophy, colpocephaly, partial agenesis of corpus callosum, hypoplasia of the falx cerebri and absent septum pellucidum) have been described. Many patients show asymmetrical changes.
Maternal diabetes has been recognized as a causative factor in more than 20% of the reported cases.
Majority of cases are sporadic. Familial occurrence has been reported in three cases.
A summary on this disease is available in Español (2009) Français (2009) Nederlands (2009)