Fibular aplasia-ectrodactyly syndrome

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Fibular aplasia-ectrodactyly syndrome
Other namesBrachydactyly-ectrodactyly with fibular aplasia or hypoplasia [1]

Fibular aplasia-ectrodactyly syndrome (or other synonyms such as brachydactyly-ectrodactyly with fibular aplasia or hypoplasia) is a very rare genetic condition which is characterized by the absence (aplasia) or underdevelopment (hypoplasia) of the fibula (calf bone, long bone lateral to the tibia), ectrodactyly (split hand/foot malformation), and/or brachydactyly (shortened digits) or syndactyly (fusion of digits). Additional symptoms may include shortness of the femur and tibial/knee/hip/ankle defects. This condition is inherited in an autosomal dominant manner, meaning that a single copy of the altered gene inherited from one parent is sufficient to cause the condition. [2] [3] [4] [5] [6]

Contents

Etiology

This condition was first described in 2002. [7] It was discovered that this condition seems to have a male preference in sporadic cases, which occur without a family history or prior genetic predisposition. These sporadic cases may arise due to nonpenetrance (when an individual carries the condition causing gene mutation - a change in DNA sequence, without developing the condition itself). [8] In contrast, familial cases, where the condition is inherited, tends to have an equal male-female preference. Offspring have a higher chance of being born with the condition if the mother carries the gene or is affected herself. [7]

This condition is very rare, since only 60 cases have been recorded in medical literature. [8]

Symptoms

One of the most frequent signs of these conditions includes premature birth (baby born too early) while other frequent symptoms involve mostly the hand, feet and certain limbs. [3]

Hands and feet

Fibular aplasia-ectrodactyly syndrome causes physical symptoms that result in both hypoplasia and aplasia of the fibular and metacarpal (any of the five bones of the hand or forefoot). The hands and feet are often characterized by phalangeal (relating to the fingers’ and toes’ small bones) hypoplasia and metatarsal (relating to the bones of the feet) while the extreme can form ectrodactyly of the hands and or feet. [8]

Limbs

The most common characteristic shows shortened limbs, including the femur (thigh bone). [8] The other common symptom is ulnar aplasia/hypoplasia (underdeveloped or missing part of the forearm bone). Within the familial cases found, it was observed that there was a higher frequency of ulnar (forearm bone) defects as well as females tending to have more symptoms related to the upper limb. [4]

From the cases that have been studied, there are no differences in terms of physical symptoms between males and females within sporadic cases. [7] The presentation of these symptoms varies depending on the individual are most commonly appeared at the neonatal stage (newborn children). [7]

Variable expressivity

Variable expression can be analyzed looking at the number of affected limbs and the severity. The phenotype for upper limbs, with increasing severity, can range from only showing brachydactyly or syndactyly, deficiency in a central axis, to involvement of the ulna and hand. [7] The severity of the lower limbs can also be similarly analyzed, ranging from brachydactyly or syndactyly, fibular aplasia, to involvement of the femoral. [7]

Diagnosis

To be diagnosed with fibular aplasia-ectrodactyly syndrome, examinations such as a complete physical examination, varying laboratory tests, imaging studies (X-rays and CT scans to examine limbs, hands and feet structures) and assessment of symptoms can be completed.

A detailed medical history assessment may be done in order to examine for autosomal dominant inheritance patterns in the case for familial cases. [9]

Treatments

Treatment for fibular aplasia-ectrodactyly varies depending on the severity of the case. The main focus is on reducing leg length discrepancies and stabilizing the knee and ankle joints. One approach is the use of orthotic devices for support, which can help improve walking stability. In cases where limb length discrepancy is significant, procedures like epiphysiodesis (slowing growth in the longer leg) or limb lengthening may be considered. Limb lengthening is often done using external circular fixators, which are devices that encircle the leg and gradually adjust bone length to align with the unaffected limb. In some severe cases where limb function is significantly compromised, amputation followed by the fitting of a prosthesis may provide the best functional outcome. [10] These methods aim to optimize movement and limb functionality, ensuring each patient receives a tailored plan to address their specific needs.

Epidemiology

When observing how often and where this condition has been identified, the prevalence is less than 1 person per 1,000,000 individuals. [3] This condition is extremely rare, yet shows global distribution of both sporadic and familial cases.

Related Research Articles

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<span class="mw-page-title-main">Dysmelia</span> Congenital disorder of a limb

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<span class="mw-page-title-main">Oligodactyly</span> Developmental anomaly of fewer fingers and toes

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<span class="mw-page-title-main">Ectrodactyly</span> Malformation of the central digit(s) of the hand or foot

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<span class="mw-page-title-main">Van De Berghe Dequeker syndrome</span> Medical condition

Van Den Berghe Dequeker syndrome, also known as ulnar hypoplasia-split foot syndrome is a very rare congenital limb malformation syndrome which is characterized by severe ulnar hypoplasia, absence of the index to pinky finger in both hands, and split-foot.

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<span class="mw-page-title-main">Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome</span> Medical condition

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<span class="mw-page-title-main">Du Pan syndrome</span> Medical condition

Du Pan syndrome, also known as fibular aplasia-complex brachydactyly syndrome, is an extremely rare genetic condition. Unlike other rare genetic conditions, Du Pan syndrome does not affect brain function or the appearance of the head and trunk. This condition is associated with alterations to the GDF5 gene. The way that this condition is passed on from generation to generation varies, but it is most commonly inherited in an autosomal recessive manner, meaning two copies of the same version of the gene are required to show this condition. Rare cases exist where the mode of inheritance is autosomal dominant, which means having only one version of the gene is enough to cause this condition.

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<span class="mw-page-title-main">Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly</span> Medical condition

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<span class="mw-page-title-main">Heart-hand syndrome, Slovenian type</span> Medical condition

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References

  1. ↑ "Fibular aplasia ectrodactyly". 16 June 2022.
  2. ↑ "Orphanet: Fibular aplasia-ectrodactyly syndrome". www.orpha.net. Retrieved 2024-12-04.
  3. 1 2 3 Gieruszczak-Bialek, D.; Oldak, M.; Skorka, A.; Waligora, J.; Korniszewski, L. (2006-02-28). "Fibular aplasia with ectrodactyly—broadening the clinical spectrum". European Journal of Medical Genetics. 49 (1): 83–86. doi:10.1016/j.ejmg.2005.04.019. PMID   16473314.
  4. 1 2 Zárate, Juan Manuel Guevara; Rodríguez, Andrea J.; Ortiz, Carlos A. (2018-06-21). "Síndrome de FATCO (aplasia fibular, campomelia de tibia y oligosindactilia) en paciente masculino: reporte de caso". Revista Colombiana de Medicina Física y Rehabilitación (in Spanish). 28 (1): 70–74. doi:10.28957/rcmfr.v28n1a7. ISSN   2256-5655.
  5. ↑ "OMIM Entry - 113310 - BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA". omim.org. Retrieved 2024-12-04.
  6. ↑ "Fibular aplasia ectrodactyly - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. 2024-12-04.
  7. 1 2 3 4 5 6 Evans, Jane A.; Reed, Martin H.; Greenberg, Cheryl R. (2002-11-15). "Fibular aplasia with ectrodactyly". American Journal of Medical Genetics. 113 (1): 52–58. doi:10.1002/ajmg.10754. ISSN   0148-7299. PMID   12400066.
  8. 1 2 3 4 Bissonnette, Bruno; Luginbuehl, Igor; Engelhardt, Thomas (2019), "Brachydactyly-Ectrodactyly, Fibular Aplasia/Hypoplasia Syndrome", Syndromes: Rapid Recognition and Perioperative Implications (2 ed.), New York, NY: McGraw-Hill Education, retrieved 2024-12-04
  9. ↑ "Fibular Aplasia Ectrodactyly Syndrome". DoveMed. Retrieved 2024-12-04.
  10. ↑ Georgeos, Marian K; Elgzzar, Dina R (2022-01-28). "Newborn Male With Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome: A New Case Report Putting the Condition Under Spotlight". Cureus. 14 (1). doi: 10.7759/cureus.21702 . ISSN   2168-8184. PMC   8882373 . PMID   35237492.


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