Synonyms: Facio-Femoral Syndrome, Femoral Hypoplasia Unusual Facies Syndrome, FH-UFS
No specific genetic defect has been found. About half of the mothers have gestational diabetes.
Key features:
(1) femoral hypoplasia and/or aplasia
(2) facial dysmorphism
Most patients have bilateral femoral involvement but in some only one femur is affected.
Facial dysmorphism:
(1) cleft lip and/or palate
(2) micrognathia or retrognathia
(3) long philtrum
(4) thin upper lip
(5) short broad-tipped nose
Other features may include:
(1) other skeletal malformations (hip dysplasia, fibular hypoplasia, polydactyly, other)
(2) cardiovascular defects
(3) genitourinary abnormalities
(4) variable intellectual developmental delay
