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Femoral-facial syndrome

Orpha number ORPHA1988
Synonym(s) FFS
FHUFS
Femoral hypoplasia - unusual facies syndrome
Prevalence -
Inheritance
  • Sporadic
Age of onset Neonatal/infancy
ICD-10
  • Q87.8
OMIM
UMLS
  • C0265263
MeSH
  • C537916
MedDRA -
SNOMED CT
  • 13280000

Summary

Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.

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.

Expert reviewer(s)

  • Pr Raoul HENNEKAM

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