Medicine:Facial femoral syndrome

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Facial femoral syndrome
Other namesFemoral 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.[2]

Signs and symptoms

  • Facial[3]
    • 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[4]
    • 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[5]
    • 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.[4]

Diagnosis

The diagnosis is based on the combination of unusual facial features and the dysplastic or absent femurs.[4]

Diagnosis may be made antenatally.[6]

Treatment

There is no known specific treatment for this condition. Management is supportive.[4]

Epidemiology

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

History

This condition was first described in 1975.[7]

References

  1. ↑ 1.0 1.1 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. ↑ Lacarrubba-Flores, Maria Dora Jazmin; Carvalho, Daniel Rocha; Ribeiro, Erlane Marques; Moreno, Carolina Araujo; Esposito, Ana Carolina; Marson, Fernando Augusto Lima; Loureiro, Thereza; Cavalcanti, Denise Pontes (September 2018). "Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair". American Journal of Medical Genetics. Part A 176 (9): 1917–1928. doi:10.1002/ajmg.a.40425. ISSN 1552-4833. PMID 30070764. 
  3. ↑ "Femoral Facial Syndrome - Symptoms, Causes, Treatment | NORD" (in en-US). National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/femoral-facial-syndrome/. 
  4. ↑ 4.0 4.1 4.2 4.3 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" (in en). Case Reports in Orthopedics 2021: 1–5. doi:10.1155/2021/6684757. PMID 34221528. 
  5. ↑ "Femoral-facial syndrome | About the Disease | GARD" (in en). https://rarediseases.info.nih.gov/diseases/61/femoral-facial-syndrome. 
  6. ↑ Castro S, Peraza E, Zapata M (2014) Prenatal diagnosis of femoral-facial syndrome: case report. J Clin Ultrasound 42(1):49-52
  7. ↑ Daentl DL, Smith DW, Scott CI, Hall BD, Gooding CA (1975) Femoral hypoplasia--unusual facies syndrome. J. Pediat. 86: 107-111
Classification



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