Femoral facial syndrome

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 .

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 . One study found that up to 80% of affected patients had normal intellectual development .

Pathology

The exact cause remains unknown. Most cases are sporadic, but some familial clusters have suggested a genetic etiology .

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.