Facial Femoral Syndrome (FFS) is a rare disorder of uncertain pathogenesis.

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

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