Femoral-Facial Syndrome (FFS) is a disorder characterized by bilateral, mostly asymmetrical underdevelopment of the thigh bones (femoral hypoplasia), and non-specific facial dysmorphism. The facial features involved in this syndrome include upslanting eyes, short nose with a broad tip, long space between the nose and upper lip, small or underdeveloped lower jaw, and cleft palate in females. There is a degree of variability in the phenotypic expression of some other features. These include lumbar spine and pelvic abnormalities, absence or hypoplasia of the fibulae, talipes, genitourinary anomalies, and severe CNS anomalies. Patients develop normal intellect.
Differential diagnoses for FFS include Campomelic syndrome, Smith-Lemli-Opitz syndrome type II, Char syndrome, Verloove Vanhoorick syndrome, Robinow syndrome, and others. Prenatal ultrasound diagnosis of the condition is feasible, in principle, considering that its characteristic features, namely femoral hypoplasia and major facial anomalies, can be recognized in utero.
Most cases of occurrence of femoral-facial syndrome are sporadic in nature. There is a strong association with maternal diabetes mellitus during pregnancy. Rare cases of autosomal dominant inheritance have also been reported. The gene(s) responsible for the condition have not been elucidated.