Preferred Label : Femoral-facial syndrome;
ICD-11 definition : Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral
or unilateral) and unusual facies (upslanting palpebral fissures, short nose with
broad tip, long philtrum, thin upper lip, micrognathia and cleft palate).;
Origin ID : 505576809;
Automatic exact mappings (from CISMeF team)
Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral
or unilateral) and unusual facies (upslanting palpebral fissures, short nose with
broad tip, long philtrum, thin upper lip, micrognathia and cleft palate).