Facial femoral syndrome is a rare congenital disorder.Luisin M, Chevreau J, Klein C, Naepels P, Demeer B, Mathieu-Dramard M, Jedraszak G, Gondry-Jouet C, Gondry J, Dieux-Coeslier A, Morin G (2017) Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review. Am J Med Genet A It is also known as femoral dysgenesis, bilateral femoral dysgenesis, bilateral-Robin anomaly and femoral hypoplasia-unusual facies syndrome. The main features of this disorder are underdeveloped thigh bones (femurs) and unusual facial features.
Signs and symptoms Facial Lips - Cleft palate and/or thin lips. Prominent philtrum Jaw - Small and/or retracted jaw (micrognathia/retrognathia) Ears - Small or virtually absent ears (microtia/anotia) Eyes - Upwardly slanting eyelids Skeleton Short limbs (micromelia) Femurs - absent/abnormal Fused bones of the spine (sacrum and coccyx) Deformation of the foot that may be turned outward or inward ((talipes)-varus/valgus) Extra fingers or toes (polydactyly) Abnormal vertebral size or shape Short stature (dwarfism) Others Genitourinary abnormalities Underdeveloped lungs Patent ductus arteriosus
Of note intellectual development typically is normal.
Cause
The cause of this condition is not known. A genetic basis is suspected. More than one case have been reported in three families. It seems to be correlated to maternal diabetes mellitus in about a third of patients. There also have been links to maternal drug exposure, viral infections, radiation, and oligohydramnios.
Diagnosis
The diagnosis is based on the combination of unusual facial features and the dysplastic or absent femurs.
Diagnosis may be made antenatally.Castro S, Peraza E, Zapata M (2014) Prenatal diagnosis of femoral-facial syndrome: case report. J Clin Ultrasound 42(1):49-52
Treatment
There is no known specific treatment for this condition. Management is supportive.
Epidemiology
This is a rare disorder with 92 cases reported up to 2017.
History This condition was first described in 1975.Daentl DL, Smith DW, Scott CI, Hall BD, Gooding CA (1975) Femoral hypoplasia--unusual facies syndrome. J. Pediat. 86: 107-111
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