"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."
"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."
"There is no specific treatment for this disease. The management relies on a multidisciplinary approach to the various orthopaedic and maxillofacial problems faced by patients."