Facial femoral syndrome
| Facial femoral syndrome | |
|---|---|
| Other names | Femoral Hyperplasia-Unusual Facies syndrome |
Facial femoral syndrome is a rare congenital disorder.[1] 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[citation needed]
- 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[citation needed]
- 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[citation needed]
- 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.[citation needed]
Diagnosis
The diagnosis is based on the combination of unusual facial features and the dysplastic or absent femurs.[citation needed]
Diagnosis may be made antenatally.[2]
Treatment
There is no known specific treatment for this condition. Management is supportive.[citation needed]
Epidemiology
This is a rare disorder with 92 cases reported up to 2017.[1]
History
This condition was first described in 1975.[3]
References
- ^ a b 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
- ^ Castro S, Peraza E, Zapata M (2014) Prenatal diagnosis of femoral-facial syndrome: case report. J Clin Ultrasound 42(1):49-52
- ^ Daentl DL, Smith DW, Scott CI, Hall BD, Gooding CA (1975) Femoral hypoplasia--unusual facies syndrome. J. Pediat. 86: 107-111