Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome

Description

FATCO syndrome comprises fibular aplasia, tibial campomelia, and oligosyndactyly (Courtens et al., 2005).

See also ectrodactyly (split-hand/foot malformation) associated with fibular hypoplasia/aplasia (113310).

Clinical Features

Hecht and Scott (1981) described half sibs, a boy and a girl, with limb anomalies. The older boy had a more severe phenotype, with terminal transverse defects involving all 4 limbs and congenital heart malformation. He was born with absent hands, absent right foot, and absent left lower leg. He had cardiomegaly and died of cyanotic heart disease at age 11 days. The heart defect was not fully characterized and no postmortem examination was performed. The second child, a girl, had absence of the right hand, oligosyndactyly of the left hand, bilateral bowing and shortening of the tibiae, absence of the left fibula, shortening of the right fibula and oligosyndactyly of the feet. She had no heart defect. The sibs shared a mother. The authors suggested recessive inheritance or gonadal mosaicism for a dominant mutation.

Courtens et al. (2005) reported an infant born of nonconsanguineous Moroccan parents with oligosyndactyly of the left hand, complete absence of the right fibula, bowing of the right tibia, and absence of the right fifth metatarsal and phalanges. The left lower limbs and right hand were radiographically normal. Courtens et al. (2005) noted that the clinical features were similar to the girl reported by Hecht and Scott (1981). The femora in both cases were normal. Courtens et al. (2005) cited a report by Capece et al. (1994) of a 24-week-old fetus with bowed left tibia, absence of the left fibula, and oligosyndactyly of the right hand. Although the femur and ulna were reportedly normal, Capece et al. (1994) diagnosed the femur-fibula-ulnar syndrome (228200) in that patient. Courtens et al. (2005) also referred to 2 unrelated Brazilian boys reported by Huber et al. (2003) who had bowed and short tibia, bilateral absence of the fibulae, and oligodactyly of the hands and feet. Although the femora and pelvic bones were reportedly normal, Huber et al. (2003) concluded that the Brazilian boys had Fuhrmann syndrome (228930). Courtens et al. (2005) stated that the common findings in these 5 patients included fibular agenesis, tibial campomelia, and oligosyndactyly, and proposed the acronym 'FATCO' for this condition.

Karaman and Kahveci (2010) reported a male infant, born at term from unrelated parents, who had oligosyndactyly of the left foot and a short angulated left leg. Radiographs showed fibular aplasia of the left leg with 3 metatarsals and 3 toe bones of the left foot. There was also a short angulated tibia. Genetic analysis showed no mutation in the WNT7A gene (601570).