Facial femoral 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.

Facial femoral syndrome
Other namesFemoral Hyperplasia-Unusual Facies syndrome

Signs and symptoms
  • Facial
  • Skeleton[2]
    • 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.[2]

Diagnosis

The diagnosis is based on the combination of unusual facial features and the dysplastic or absent femurs.[2]

Diagnosis may be made antenatally.[3]

Treatment

There is no known specific treatment for this condition. Management is supportive.[2]

Epidemiology

This is a rare disorder with 92 cases reported up to 2017.[1]

History

This condition was first described in 1975.[4]

References
  1. 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
  2. Ghali, Abdullah; Salazar, Luis; Momtaz, David; Prabhakar, Gautham; Richier, Preston; Dutta, Anil (2021-06-15). "The Clinical Manifestations of Femoral-Facial Syndrome in an Orthopaedic Patient". Case Reports in Orthopedics. 2021: 1–5. doi:10.1155/2021/6684757. PMC 8219463. PMID 34221528.
  3. Castro S, Peraza E, Zapata M (2014) Prenatal diagnosis of femoral-facial syndrome: case report. J Clin Ultrasound 42(1):49-52
  4. Daentl DL, Smith DW, Scott CI, Hall BD, Gooding CA (1975) Femoral hypoplasia--unusual facies syndrome. J. Pediat. 86: 107-111
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.