Fibular Hemimelia\FATCO Syndrome
What is Fibular Hemimelia\FATCO Syndrome?
FATCO syndrome is a rare malformation of the lower limbs in newborns. It involves fibular hemimelia, tibial campomelia, and lower limb oligosyndactyly in the lateral rays. Tibia and fibula are the large and small bones of the lower leg respectively. Fibular hemimelia is a term describing a spectrum of conditions from fibular aplasia or the complete absence of the fibula to mild fibular hypoplasia or the partial formation of the fibula. Tibial campomelia refers to the bowing and bending of the tibia. Oligosyndactyly in lower limbs is a condition in which multiple toes are completely or partially fused together.
FATCO syndrome is a rare malformation of the lower limbs in newborns. It involves fibular hemimelia, tibial campomelia, and lower limb oligosyndactyly in the lateral rays. Tibia and fibula are the large and small bones of the lower leg respectively. Fibular hemimelia is a term describing a spectrum of conditions from fibular aplasia or the complete absence of the fibula to mild fibular hypoplasia or the partial formation of the fibula. Tibial campomelia refers to the bowing and bending of the tibia. Oligosyndactyly in lower limbs is a condition in which multiple toes are completely or partially fused together.
Although the prevalence of FATCO syndrome is unknown, fibular hemimelia is estimated to occur in 7-20 per 1,000,000 newborns. Fibular hemimelia is a rare condition but it is the most common form of lower limb malformation. Some studies suggest that males are more likely to be affected, but further evidence for this is limited.
Fibular hemimelia typically occurs in individuals without any family history and on one side of the body, suggesting that a genetic cause is not involved. However, some studies suggest that fibular hemimelia as a part of a malformation syndrome, such as FATCO syndrome, may be associated with an unknown genetic cause with an unknown mode of inheritance. Although multiple genes are involved in limb development, there are currently no specific genes identified to be associated with FATCO syndrome.
Common symptoms of FATCO syndrome include fibular hemimelia which ranges from a complete absence of the fibula to the presence of an abnormally shaped or a shorter than normal fibula. The tibia is also usually malformed. These two symptoms occur in almost all individuals affected by FATCO syndrome. Many affected individuals may also be born with skin dimpling on their leg and some with one or both hands missing. Less commonly, the heart and the cardiovascular system might be affected. In addition, the webbing or a complete absence of multiple toes might be observed. The mental development of affected children is usually unaffected.
Diagnosis of fibular hemimelia and FATCO syndrome usually relies on radiographic findings that indicate lower limb abnormalities associated with FATCO syndrome. Other tests including genetic testing may be performed to rule out other conditions with similar or overlapping symptoms.
Individuals with suspected FATCO syndrome or fibular hemimelia often undergo X-ray imaging to look for limb abnormalities.
Treatment depends on the specifics of each case and the severity of symptoms. Treatment options range from physiotherapy to limb-lengthening and surgical procedures to amputation in more severe cases. The goal of treatment is to preserve the foot as much as possible or equalize the length of the two legs. For instance, epiphysiodesis is a surgical procedure that stops the future growth of the bone and is usually used to correct length discrepancies between two legs.
Prognosis is highly variable and depends on the severity of the symptoms. For example, whether amputation is required or not can affect the quality of life of the individual. However, the mental development of the individual is typically unaffected.
Genetic and Rare Diseases Information Center. Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome. June 2020. Available from https://rarediseases.info.nih.gov/diseases/2622/fibular-aplasia-tibial-campomelia-and-oligosyndactyly-syndrome
Bastaki LA, Al-Hathal M, Sadik DI, Alrohaif HE, Yousef HY, Khallaf MG. A case report of FATCO syndrome. Middle East Journal of Medical Genetics. 2015;4(1):28-30.
doi: 10.1097/01.MXE.0000456627.22542.40
Smets G, Vankan Y, Demeyere A. A Female Newborn Infant with FATCO Syndrome Variant (Fibular Hypoplasia, Tibial Campomelia, Oligosyndactyly) – A Case Report. Journal of the Belgian Society of Radiology. 2016;100(1):41. DOI: http://doi.org/10.5334/jbr-btr.929
berc A, Sulko J. Fibular hemimelia - diagnostic management, principles, and results of treatment. Journal of Pediatric Orthopaedics. 2013;22(5 ):450-456. doi: 10.1097/BPB.0b013e32836330dd.
Vyskocil V, Dortova E, Dort J, Chudacek Z. FATCO syndrome - fibular aplasia, tibial campomelia and oligosyndactyly. Joint Bone Spine. 2011;78(2):217-218.
https://doi.org/10.1016/j.jbspin.2010.08.013.
Last updated 1 Jul 2020, 01:35 AM
1 Jul 2020, 01:35 AM
Hi everyone,
The Fibular Hemimelia\FATCO Syndrome community details have been updated. We added more information about the cause, prevalence, symptoms, diagnosis, and treatment. Hopefully, you find it helpful.
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I am a grandmother of a beautiful little girl born 11/2019 with FATCO syndrome.
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Created by RareshareTeam | Last updated 1 Jul 2020, 01:35 AM
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