The normal position of the human foot is such that the sole of the foot is flat against the

ground while
walking. Clubfoot is a congenital abnormality in which the foot is adducted (angled inward). Correction
of clubfoot is required for normal ambulation later in life.

Etiology

The true etiology of congenital clubfoot is unknown. Most infants who have clubfoot have no
identifiable genetic, syndromal, or extrinsic cause.7

Extrinsic associations include teratogenic agents (eg, sodium aminopterin), oligohydramnios, and
congenital constriction rings. Genetic associations include mendelian inheritance (eg, diastrophic
dwarfism; autosomal recessive pattern of clubfoot inheritance).

Cytogenetic abnormalities (eg, congenital talipes equinovarus [CTEV]) can be seen in

syndromes involving chromosomal deletion. It has been proposed that idiopathic CTEV in
otherwise healthy infants is the result of a multifactorial system of inheritance.11 Evidence for this
is as follows:

Pathophysiology

Theories of the pathogenesis of clubfeet are as follows:

 Arrest of fetal development in the fibular stage

 Defective cartilaginous anlage of the talus
 Neurogenic factors: Histochemical abnormalities have been found in posteromedial and
peroneal muscle groups of patients with clubfeet. This is postulated to be due to
innervation changes in intrauterine life secondary to a neurologic event, such as a stroke
 leading to mild hemiparesis or paraparesis. This is further supported by a 35% incidence
of varus and equinovarus deformity in spina bifida.
 Retracting fibrosis (or myofibrosis) secondary to increased fibrous tissue in muscles and
ligaments: In fetal and cadaveric studies, Ponseti also found the collagen in all of the
ligamentous and tendinous structures (except the Achilles tendon), and it was very
loosely crimped and could be stretched. The Achilles tendon, on the other hand, was
made up of tightly crimped collagen and was resistant to stretching. Zimny et al found
myoblasts in medial fascia on electron microscopy and postulated that they cause medial
contracture.1,2,12
 Anomalous tendon insertions: Inclan proposed that anomalous tendon insertions result in
clubfeet.13 However, other studies have not supported this. It is more likely that the
distorted clubfoot anatomy can make it appear that tendon insertions are anomalous.
 Seasonal variations: Robertson noted seasonal variations to be a factor in his
epidemiologic studies in developing countries.14 This coincided with a similar variation in
the incidence of poliomyelitis in the children in the community. Clubfoot was therefore
proposed to be a sequela of a prenatal poliolike condition. This theory is further
supported by motor neuron changes in the anterior horn in the spinal cord of these babies.

Causes of Clubfoot (Diseases Database):

The follow list shows some of the possible medical causes of Clubfoot that are listed by the
Diseases Database:

 Cerebrohepatorenal syndrome
 Hereditary sensorimotor neuropathy type 3
 Tel Hashomer camptodactyly syndrome
 Diastrophic dwarfism
 Chromosome 18 trisomy syndrome
 Prune belly syndrome
 Gordon syndrome
 Fetal akinesia-hypokinesia sequence
 Ellis-van Creveld syndrome

Anatomy and Pathophysiology

All clubfeet are not of the same severity, although all
have the same general appearance (see Figure 1). The
feet are twisted inward so that the top of the foot is
where the bottom should be.

There is often a deep crease on the bottom of the

midfoot (see Figure 2).

The foot and calf are smaller in affected limbs, which

is more obvious in a child with a clubfoot on only one
side (see Figure 3).
Clubfoot may occur as an isolated disorder (idiopathic) or in combination with various
syndromes and other associated anomalies such as arthrogryposis and myelodysplasia.
Medical examinations by your doctor or blood tests should be able to determine whether
your baby's clubfoot is idiopathic.

Clubfoot can be mild or severe and all cases require treatment. Clubfoot will not resolve
without treatment. The clubfoot is not painful to the infant who does not yet walk.

The incidence of idiopathic clubfoot is estimated to be one to two per 1000 live births. It has
a male predominance of 2:1 and occurs in both feet about 50 percent of the time. There is a
much higher incidence if the patient has a positive family history for clubfoot.

The etiology of idiopathic clubfoot is unknown. The most widely accepted theory is that
clubfoot is caused by a combination of genetic and environmental factors.

Is clubfoot inherited?

There is a positive family history of clubfoot in approximately 25 percent of all patients,

suggesting a genetic basis for this disorder. If one child in the family has clubfoot, the
chance of a second child being born with clubfoot is around 5 percent. When one parent is
affected with clubfoot, there is a 3 percent to 4 percent chance that the offspring will also
be affected. However, when both parents are affected, their children have a 15 percent
chance of being born with clubfoot.

Natural History

Clubfoot deformity, regardless of etiology or associated clinical problems, results in a severe

handicap unless corrected. The surface area for weight-bearing in an untreated clubfoot is the
outside of the foot. A child with an untreated clubfoot will walk on the outer edge of the foot
instead of the sole, develop painful calluses, be unable to wear shoes and have lifelong painful
feet that often severely limit activity and employment (see Figure 4).