Femoral facial syndrome, also known as femoral hypoplasia-unusual facies syndrome, is a rare congenital syndrome characterized by varying degrees of femoral hypoplasia and facial dysmorphism 1.
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Clinical presentation
Femoral facial syndrome can cause varying degrees of femoral malformation ranging from hypoplasia to aplasia/agenesis. Various facial malformations have been described, most commonly resembling Robin sequence with cleft palate, micrognathia or retrognathia.
Many other features have been variably described, such as a short nose, long philtrum, thin upper lip, ear malformations, as well as pelvic, renal and central nervous system anomalies 2. One study found that up to 80% of affected patients had normal intellectual development 1.
Pathology
The exact cause remains unknown. Most cases are sporadic, but some familial clusters have suggested a genetic etiology 1,2.
Radiographic features
Prenatal ultrasound can sometimes allow diagnosis by noting the association of femoral hypoplasia (or aplasia) and facial malformations.
Treatment and prognosis
There is no specific treatment for this disease. The management relies on a multidisciplinary approach to the various orthopedic and maxillofacial problems faced by patients.
Differential diagnosis
While the appearance is fairly typical, one should consider caudal regression syndrome in the differential diagnosis.
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