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A case report of FATCO syndrome: fibular aplasia, tibial campomelia, and oligosyndactyly

Bastaki, Laila A.; Al-Hathal, Muneef; Sadik, Doaa I.; Alrohaif, Hadil E.; Yousef, Hala Y.; Khallaf, Mohamed G.

Middle East Journal of Medical Genetics: January 2015 - Volume 4 - Issue 1 - p 28–30
doi: 10.1097/01.MXE.0000456627.22542.40
Case reports

We report a male newborn with a rarely described congenital limb deficiency, fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome. This syndrome consists of shortening and anterior bowing of the lower limbs at the distal third of the tibia associated with overlying soft tissue dimpling and oligosyndactyly of the feet. Radiographic examination revealed complete absence of the fibula, tibial campomelia, and oligosyndactyly. Femora, humeri, ulnae, and radii were normal. To date, 12 cases have been published worldwide. The etiology of this syndrome is still unknown.

aKuwait Medical Genetic Center, Sulaibikhat

Departments of bNeonatology

cRadiology, Maternity Hospital, Kuwait, Kuwait

Correspondence to Doaa I. Sadik, MD, Kuwait Medical Genetic Center, PO Box 31121 Sulaibikhat 80901, Kuwait Tel: +965 24814328; fax: +965 42073; e-mail: doaadoaaibrahim@yahoo.com

Received July 29, 2014

Accepted September 28, 2014

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Introduction

Limb development is a complex regulated developmental phenomenon involving multiple genes (Ekbote, and Danda, 2012). Unilateral or bilateral fibular aplasia is a rare malformation, although the fibula is the most common long bone associated with a congenital absence (Courtens et al., 2005). Most cases of fibular aplasia are isolated and sporadic events, which implies that the majority are caused by nongenetic and teratogenic insults. However, fibular aplasia can be a part of a malformation syndrome when associated with focal deficiency of the proximal femur and distal digital and/or toe anomalies (femur fibula ulna syndrome, MIM 228200).

Fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome (MIM 246570) is a syndrome of unknown genetic basis and inheritance, with variable expressivity and penetrance. FATCO syndrome was first described by Hecht and Scott (1981). However, Courtens et al. (2005) proposed the acronym FATCO. Here, we report a new case with FATCO syndrome. To date, 12 cases have been published worldwide, excluding the case reported here (Hecht and Scott, 1981; Capece et al., 1994; Huber et al., 2003; Courtens et al., 2005; Kitaoka et al., 2009; Karaman and Kahveci, 2010; Vyskocil et al., 2011; Bieganski et al., 2012; Ekbote and Danda, 2012).

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Case report

A boy was born at 35 weeks gestation by normal vaginal delivery. He was the third offspring of nonconsanguineous parents. His birth weight was 2755 g (above 50th centile), length was 44 cm (10th centile), and head circumference was 32 cm (50th centile). His Apgar scores were 2 and 6 at 1 and 5 min, respectively. There was no history of fever, trauma, rash, or teratogenic exposure during the antenatal period. On examination at birth, there was bilateral shortening of both legs, with anterior bowing associated with overlying skin dimpling over the junction of the proximal 2/3 and distal 1/3. He had right three-ray and left two-ray feet with oligosyndactyly (Figs 1 and 2). The upper limbs and the spine were normal. Systemic examination revealed no additional findings. The skeletal survey revealed bilateral fibular aplasia, bowed tibia (campomelia), oligosyndactyly, three metatarsals in the right foot, and two metatarsals in the left foot (Fig. 3). Femora, humeri, ulnae, and radii were normal. Chromosomal analysis and brain and pelvic abdominal ultrasound were normal. A diagnosis of FATCO syndrome was thus made.

Figure 1

Figure 1

Figure 2

Figure 2

Figure 3

Figure 3

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Discussion

The present case has features of FATCO syndrome, which consists of fibular aplasia, tibial campomelia, and oligosyndactyly. All reported 12 cases were characterized by sparing of the femora, pelvis, radii, and humerus. The unilateral/bilateral nature of involvement was almost equal (Karaman and Kahveci, 2010). The Online Mendelian Inheritance in Man (OMIM) database categorizes malformation syndromes with fibular aplasia into numerous entities, of which the following four disorders may have been considered in the differential diagnosis of this case: (a) orofaciodigital syndrome X, (b) fibular aplasia with ecterodactyly, (c) Fuhrmann syndrome, and (d) FATCO syndrome.

Orofaciodigital syndrome X (MIM 165590) presents fibular aplasia, along with radial, mesomelic shortening and facial dysmorphism with oral clefts and vestibular frenuli (Figuera et al., 1993). Fibular aplasia with ecterodactyly (MIM 113310) is reported to present with hypoplastic phalanges of the hands or feet, split hand/foot malformation, and fibular aplasia or hypoplasia.

Fuhrmann syndrome (MIM 228930), an autosomal recessive disorder, bears close resemblance to the FATCO syndrome but with a much wider spectrum, including aplasia/hypoplasia of the ulna, hypoplasia of the pelvis, aplasia/hypoplasia of the femur, fibular aplasia, and variable digital abnormalities, as well as absent or dysplastic nails. FATCO syndrome does not manifest pelvic, femoral, ulnar, or nail abnormalities. Moreover, a straight femur characterizes FATCO syndrome. The genetic cause of FATCO syndrome remains unknown. Hecht and Scott (1981) reported affected half sibs who shared a normal mother. The authors suggested recessive inheritance or gonadal mosaicism for a dominant mutation. Reports by Kitaoka et al. (2009) and Karaman and Kahveci (2010) excluded WNT7A as a potential gene for FATCO syndrome. Bieganski et al. (2012) documented three patients with FATCO syndrome. They performed genetic screening for copy-number variations and mutations in the TP63 and WNT10 B genes, which did not show any genetic abnormalities. The authors suggested that all FATCO patients belong to the phenotype fibular aplasia with ecterodactyly. However, this assumption needs identification of the molecular basis of FATCO syndrome.

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Conclusion

We report the 13th case with FATCO syndrome, which is a rare genetic developmental limb disorder and, thus far, has an unknown molecular basis. Genetics counseling in these rare cases remains difficult.

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Acknowledgements

Conflicts of interest

There are no conflicts of interest.

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References

Bieganski T, Jamsheer A, Sowinska A, Baranska D, Niedzielski K, Kozlowski K, Czarny Ratajczak M. (2012). Three new patients with FATCO: fibular agenesis with ectrodactyly. Am J Med Genet A 158A:1542–1550.
Capece G, Fasolino A, Della Monica M, Lonardo F, Scarano G, Neri G. (1994). Prenatal diagnosis of femur-fibula-ulna complex by ultrasonography in a male fetus at 24 weeks of gestation. Prenat Diagn 14:502–505.
Courtens W, Jespers A, Harrewijn I, Puylaert D, Vanhoenacker F. (2005). Fibular aplasia, tibial campomelia, and oligosyndactyly in a male newborn infant: a case report and review of the literature. Am J Med Genet 134A:321–325.
Ekbote AV, Danda S. (2012). A case report of fibular aplasia, tibial campomelia and oligosyndactyly (FATCO) syndrome associated with Klinefelter syndrome and review of the literature. Foot Ankle Spec 5:37–40.
Figuera LE, Rivas F, Cantu JM. (1993). Oral-facial-digital syndrome with fibular aplasia: a new variant. Clin Genet 44:190–192.
Hecht JT, Scott CI Jr. (1981). Limb deficiency syndrome in half-sibs. Clin Genet 20:432–437.
Huber J, Volpon JB, Ramos ES. (2003). Fuhrmann syndrome: two Brazilian cases. Clin Dysmorphol 12:85–88.
Karaman A, Kahveci H. (2010). A male newborn infant with FATCO syndrome (fibular aplasia, tibial campomeua and oligodactyly): a case report. Genet Couns 21:285–288.
Kitaoka T, Namba N, Ji YK, Kubota T, Miura K, Miyoshi Y, et al.. (2009). A Japanese male patient with ‘fibular aplasia, tibial campomelia and oligodactyly’: an additional case report. Clin Pediatr Endocrinol 18:81–86.
Vyskocil V, Dortova E, Dort J, Chudacek Z. (2011). FATCO syndrome – fibular aplasia, tibial campomelia and oligosyndactyly. Joint Bone Spine 78:217–218.
Keywords:

FATCO; fibular aplasia; oligosyndactyly; tibial campomelia

© 2015 Middle East Journal of Medical Genetics