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Clubfoot
Clubfoot, or talipes equinovarus, is one of the most
common congenital deformities affecting the lower
limbs in approximately 1–2 in 1,000 live births. The
incidence is higher in Hispanics and lower in Asians.
Although clubfoot is recognizable at birth, the severity
of the deformity can vary from mild to an extremely
rigid foot that is resistant to manipulation (Dobbs and
Gurnett 2009).
Synonyms and Related Disorders
Talipes equinovarus
Genetics/Basic Defects
1. Pathogenesis
a. Genetic cause: suggested because it tends to run
in families (Lochmiller et al. 1998)
b. Oligohydramnios: suggested as a cause from
early amniocentesis data (CEMAT Group 1998)
c. Osseous deformities (Shapiro and Glimcher
1979), muscle abnormalities (Herceg et al.
2006), and arrested fetal development (Fukuhara
et al. 1994): hypothesized to play a role in
pathogenesis
2. Etiology (Dobbs and Gurnett 2009)
a. Most commonly as an isolated birth defect and
considered idiopathic (Wynne-Davies 1964):
various theories on etiologies include:
i. Vascular deficiencies (Hootnick et al. 1982)
ii. Environmental factors
a) Early amniocentesis (<13 weeks
gestation): associated with an increased
risk in talipes equinovarus (an uncommon
risk factor), compared to midgestational
amniocentesis or chorionic villus sam-
pling (Philip et al. 2004)
b) Partially associated with amniotic fluid
leakage: suggesting that oligohydramnios
occurring at a critical gestational period
may be detrimental to foot development
(Tredwell et al. 2001)
c) Environmental exposure to cigarette
smoke in utero: an independent risk factor
(Honein et al. 2000)
iii. In utero positioning (Dunn 1972)
iv. Abnormal muscle insertions (Bonnell and
Cruess 1969)
b. Genetic factors suggested by:
i. Thirty-three percent concordance of identical
twins and the fact that nearly 25% of all cases
are familial (Lochmiller et al. 1998)
ii. Differences in clubfoot prevalence across
ethnic populations with the lowest prevalence
in Chinese (0.39 cases per 1,000 live births)
and the highest in Hawaiians and Maoris
(seven per 1,000) (Beals 1978; Chung et al.
1969)
c. Multifactorial and possibly polygenic causation
suggested (Lochmiller et al. 1998; Wynne-
Davies 1972)
d. Prevalence of additional congenital anomalies
i. Chromosomal abnormalities (e.g., trisomy
18 syndrome) in patients with clubfoot
(24–50%) (Bakalis et al. 2002; Gurnett
et al. 2008)
ii. Distal arthrogryposis
iii. Myelomeningocele
H. Chen, Atlas of Genetic Diagnosis and Counseling, DOI 10.1007/978-1-4614-1037-9_46,# Springer Science+Business Media, LLC 2012
401
e. Recent identification of a rare mutation in the
transcription factor PITX1 in a large family with
idiopathic clubfoot: importance of genes
involved in early limb development (Gurnett
et al. 2008)
i. PITX1: the first gene implicated in clubfoot
that explains the specific involvement of the
foot, since PITX1 is expressed nearly exclu-
sively in the hindlimb and is responsible for
rapid evolutionary changes in pelvic mor-
phology in lower vertebrates (Shapiro et al.
2004).
ii. Specific involvement of the foot also appears
to exclude many of the skeletal muscle
contractile genes that are responsible for
distal arthrogryposis (Sung et al. 2003a, b;
Toydemir et al. 2006; Veugelers et al. 2004)
in the causation of idiopathic clubfoot, as
mutations in these genes cause both upper
and lower extremity involvement and were
not identified in idiopathic clubfoot patients
(Gurnett et al. 2009).
3. Multifactorial inheritance
a. Most infants with clubfoot (idiopathic congenital
clubfoot) have no identifiable genetic, cytoge-
netic, syndromal, or extrinsic cause. The idio-
pathic congenital clubfoot is primarily caused
by a multifactorial inheritance.
b. The observed percentages of talipes equinovarus
in relatives of an affected child are consistent
with a multifactorial mode of inheritance
(Wynne-Davies 1965, 1972)
i. Monozygotic twins with about 32.5% rate of
concordance (both twins affected with
clubfoot)
ii. First degree relatives (parents and siblings)
occurrence rate
a) 2.14%
b) About 17 times as high as the population
rate
iii. Second degree relatives (aunts and uncles)
occur
a) 0.61%
b) About six times as high as the population
rate
iv. Third degree relatives (cousins)
a) 0.2%
b) Near the incidence in the general
population
4. Part of a genetic syndrome
a. An autosomal recessive inheritance of clubfoot:
for example,
i. Diastrophic dwarfism
ii. Larsen syndrome
iii. Smith-Lemli-Opitz syndrome
b. An autosomal dominant inheritance of clubfoot:
for example,
i. Distal arthrogryposis type 2A (Whistling-
face syndrome)
ii. Distal arthrogryposis type 1
iii. Freeman-Sheldon syndrome
c. An X-linked recessive inheritance of clubfoot:
for example, Pierre-Robin syndrome
d. Other syndromic clubfoot: for example,
i. Meningomyelocele/spina bifida
ii. Sacral agenesis
iii. Constriction band syndrome
iv. Congenital myopathy
5. Part of a cytogenetic abnormality: Numerous cyto-
genetic abnormalities produce individuals with
multiple anomalies including clubfoot
6. Extrinsic causes
a. Teratogenic agents
i. Sodium aminopterin
ii. Position in utero at the time of d-tubocurarine
paralysis
b. Loss of amniotic fluid during gestation
c. Mechanical forces or positional influence
(restriction of fetal foot movement by the uterus)
d. Drugs
Clinical Features
1. Bilateral in about 50% of cases
2. Three major components of talipes equinovarus
a. Equinus (limitation of extension) of the ankle
and subtalar joint
b. Hindfoot and midfoot varus
c. Forefoot adduction
3. Evaluation of the foot, ankle, and leg
a. “Down and in” appearance
b. Shorter and wider than the normal foot
c. Flexible, softer heel due to hypoplastic calcaneus
d. Concave medial border
e. Transverse plantar creases or clefts at the
midfoot and at the posterior part of the ankle
f. Highly convex lateral border
402 Clubfoot
g. Internally rotated heel making the soles of the
feet facing each other in cases of bilateral
deformities
h. Internal rotation of the leg
i. Variable rigidity of the foot
j. Calf and foot atrophy (more obvious in older
child than in infant)
k. Mild hypoplasia of the tibia, fibula, and bones
of the foot
l. Pronounced tightness of the Achilles tendon
with very little dorsiflexion
m. Range of motion of the joints
4. Idiopathic clubfoot
a. An isolated deformity of the foot and leg
i. Identifiable in utero
ii. Consists of four components
a) Equinus
b) Hindfoot varus
c) Forefoot adductus
d) Cavus
b. When untreated, children with clubfoot walk on
the sides and/or tops of their feet, resulting in
(Dobbs and Gurnett 2009):
i. Callus formation
ii. Potential skin and bone infections
iii. Inability to wear standard shoes
iv. Substantial limitations in mobility and
employment opportunities
c. By far the most common form
d. Occurring more common in males than in
females (2 � 2.5:1)
e. Normal upper limbs
f. Associated features
i. Joint laxity
ii. Congenital dislocation of the hip
iii. Tibial torsion
iv. Ray anomalies of the foot (oligodactyly)
v. Absence of some tarsal bones
vi. A history of other foot anomalies in the family
5. Various associated anomalies in syndromic talipes
equinovarus
Diagnostic Investigations
1. Plain radiography
a. Limitations
i. Risk of ionizing radiation
ii. Proper positioning difficult
iii. Lack of ossification in some involved bones
a) Only talus, calcaneus, and metatarsals are
ossified in neonates
b) Cuboid ossification at 6 months
c) Cuneiforms ossification at 1 year
d) Navicular ossification after 3 years
b. Assessment
i. Hindfoot equinus (plantar flexion of the
anterior calcaneus)
ii. Hindfoot varus (calcaneus rotated around
the talus into a varus, i.e., toward midline,
position)
iii. Forefoot varus (increased forefoot supina-
tion on dorsoplantar view)
c. Common measurements
i. Anteroposterior talocalcaneal angle (typi-
cally <20� in a clubfoot)
ii. Talar-first metatarsal angle
a) Up to about 30� of valgus in a normal foot
b) Mild-to-severe varus in a clubfoot
iii. Medial displacement of the cuboid ossifica-
tion center on the axis of the calcaneus
representing either of the following:
a) Angular deformity of the calcaneus
b) Medial subluxation of the cuboid on the
calcaneus
2. CT scan
a. Limitations
i. Risk of ionizing radiation
ii. Lack of ossification of the tarsal bones
iii. Susceptible to motion artifact
b. Advantage: better assessment of complex
3-dimensional deformity by 3-dimensional
reconstructions
3. MRI
a. Limitations
i. Need for patient sedation
ii. Loss of signal caused by ferromagnetic
effects of fixation devices
b. Advantages
i. Capability of multiplanar imaging
ii. Excellent depiction of following:
a) Ossific nuclei
b) Cartilaginous anlage
c) Surrounding soft-tissue structures
c. Findings
i. Plantar flexion
ii. Varus angular deformity of the talus, calca-
neus, and cuboid
Clubfoot 403
Genetic Counseling
1. Recurrence risk: depends on underline etiology
a. Patient’s sib
i. Multifactorial trait: approximately 2.1%
(first degree relatives)
ii. Autosomal recessive: 25%
iii. Autosomal dominant: not increased unless
a parent is affected
iv. X-linked recessive: 50% of male sibs
affected if the mother is a carrier
v. Chromosomal: increased risk, especially
a parent is a translocation carrier
b. Patient’s offspring
i. Multifactorial: approximately 2.1%
ii. Autosomal recessive: not increased unless
the spouse is also a carrier
iii. Autosomal dominant: 50%
iv. X-linked recessive: All daughters of affected
males will be carriers. All sons of an affected
male will be normal.
v. Chromosomal: increased risk
2. Prenatal diagnosis
a. Ultrasonography: Wide variation in the accuracy
of ultrasonography
i. Isolated clubfoot
a) Better prognosis especially detected in the
3rd trimester of pregnancy
b) Poor correlation between the prenatal
appearance of the foot on ultrasound find-
ings and the severity of the talipes at birth
ii. Complex clubfoot: associated with syndromic,
neuromuscular, or chromosomal conditions
3. Management
a. Traditional nonoperative approach
i. Appropriate initial management for all
children with clubfoot
ii. Splintage begins at 2–3 days after birth
iii. Order of correction
a) Forefoot adduction
b) Forefoot supination
c) Gentle correction of equinus
iv. Two methods most widely performed and
with highest reported long-term success rates
a) Kite and Lovell method
b) Ponseti method
v. “Montpellier” method: remains popular in
France
b. Ponseti method: currently widely utilized with
high success rate in treating clubfoot
i. Goal
a) To reduce or eliminate deformity
(equinus, hindfoot varus, forefoot
adductus, and cavus)
b) To attain functional, pain-free, planti-
grade foot with good mobility and with-
out calluses, and without need to wear
modified shoes
ii. Techniques
a) Serial manipulation
b) A specific technique of cast application
c) Possible percutaneous Achilles tenotomy
iii. Significant risk factors for the recurrence of
clubfoot deformity after correction with the
Ponseti method
a) Noncompliance of the parents
b) Lower educational level of the parents
iv. Outcome
a) Appears to be effective
b) Requires only a reasonable amount of
time out of the lives of the patient and
his or her parents
c) Frequently include some minimal inva-
sive surgery
c. Kite and Lovell method
a) Starting with stretching of the foot through
longitudinal traction applied to the foot
b) Less often requires minimally invasive
surgery
c) More time-consuming
d. “Montpellier” method
i. Require fairly extensive physical therapy
ii. Demand substantial parental time and
attention
iii. Long-term results yet to be confirmed
e. Operative approach
i. Should be considered only after a suitable
trial of manipulating the foot and holding it
in a suitable cast or other device has failed
ii. Operative treatment
a) Incisions
b) Medial plantar release
c) Posterior release
d) Lateral release
e) Reduction and fixation
f) Intraoperative assessment
g) Wound closure
404 Clubfoot
h) Revision surgery
i) Postoperative evaluation
iii. Treatment of residual deformity
a) Residual forefoot adduction
b) Residual cavus
c) Angulation of the heel for residual varus
or valgus
d) Dynamic forefoot supination
e) Residual toeing-in
f) Dorsal bunion (a painful swelling of the
bursa of the first joint of the big toe)
g) Overcorrected foot
h) Skin problems
f. Complications of treatment
i. Failure to correct (undercorrection) resulting
from:
a) Selection of inappropriate procedure
b) Inadequate performance of an appropri-
ate procedure
ii. Overcorrection resulting from:
a) Selection of an inappropriate procedure
b) Overzealous release of appropriate
structures
c) Inappropriate release of normal
structures
iii. Recurrence of deformity
References
Bakalis, S., Sairam, S., Homfray, T., et al. (2002). Outcome of
antenatally diagnosed talipes equinovarus in an unselected
obstetric population. Ultrasound in Obstetrics & Gynecol-ogy, 20, 226–229.
Bar-On, E., Mashiach, R., Inbar, O., et al. (2005). Prenatal
ultrasound diagnosis of club foot. Outcome and recommen-
dations for counseling and follow-up. The Journal of Boneand Joint Surgery. British volume, 87, 990–993.
Barry, M. (2005). Prenatal assessment of foot deformity. EarlyHuman Development, 81, 793–796.
Beals, R. K. (1978). Club foot in theMaori: A genetic study of 50
kindreds. The New Zealand Medical Journal, 88, 144–146.Bonnell, J., & Cruess, R. L. (1969). Anomalous insertion of the
soleus muscle as a cause of fixed equinus deformity. A case
report. The Journal of Bone and Joint Surgery. Americanvolume, 51, 999–1000.
CEMAT (The Canadian Early and Mid-trimester Amniocentesis
Trial) Group. (1998). Randomised trial to assess safety and
fetal outcome of early and midtrimester amniocentesis. Lan-cet, 351, 242–247.
Chung, C. S., Nemechek, R.W., Larsen, I. J., et al. (1969). Genetic
and epidemiological studies of clubfoot in Hawaii. General
and medical considerations. Human Heredity, 19, 321–342.
Chung, E. M., & Rooks, V. J. (2007). clubfoot. EMedicine.com,
April, 2007.
Cowell, H. R. (1985). The management of club foot. TheJournal of Bone and Joint Surgery. American volume, 67,991–992.
Cowell, H. R., & Wein, B. K. (1980). Genetic aspects of club
foot. The Journal of Bone and Joint Surgery. Americanvolume, 62, 1381–1384.
Cummings, R. J., &Davidson, R. S. (2002). Congenital clubfoot.
The Journal of Bone and Joint Surgery. American volume,84, 290–308.
Dobbs, M. B., & Gurnett, C. A. (2009). Update on clubfoot:
Etiology and treatment (Review). Clinical Orthopaedics andRelated Research, 467, 1146–1153.
Dobbs, M. B., Rudzki, B., Purcell, D. B., et al. (2004). Factors
predictive of outcome after use of the Ponseti method for the
treatment of idiopathic clubfeet. The Journal of Bone andJoint Surgery. American volume, 86, 22–27.
Dunn, P. M. (1972). Congenital postural deformities: Perinatal
associations. Proceedings of the Royal Society of Medicine,65, 735–738.
Engel, V., Damborg, F., Andersen, M., et al. (2006). Club foot. A
twin study. The Journal of Bone and Joint Surgery. Britishvolume, 88, 374–376.
Fukuhara, K., Schollmeier, G., & Uhthoff, H. K. (1994). The
pathogenesis of club foot. A histomorphometric and immu-
nohistochemical study of fetuses. The Journal of Bone andJoint Surgery. British volume, 76, 450–457.
Gurnett, C. A., Alaee, F., Desruisseau, D., et al. (2009). Skeletal
muscle contractile gene (TNNT3, MYH3, TPM2) mutations
not found in vertical talus or clubfoot. Clinical Orthopaedicsand Related Research, 467, 1195–1200.
Gurnett, C. A., Alaee, F., Kruse, L.M., et al. (2008). Asymmetric
lower-limb malformations in individuals with homeobox
PITX1 genemutation.American Journal of HumanGenetics,83, 616–622.
Gurnett, C. A., Boehm, S., Connolly, A., et al. (2008). Impact of
congenital talipes equinovarus etiology on treatment out-
comes. Developmental Medicine and Child Neurology, 50,498–502.
Hart, E. S., Grottkau, B. E., Rebello, G., et al. (2005). The
newborn foot: Diagnosis and management of common con-
ditions. Orthopaedic Nursing, 24, 313–321.Herceg, M. B., Weiner, D. S., & Agamanolis, D. P. (2006).
Histologic and histochemical analysis of muscle specimens
in idiopathic talipes equinovarus. Journal of Pediatric Ortho-paedics, 26, 91–93.
Hootnick, D. R., Levinsohn, E. M., Crider, R. J., et al. (1982).
Congenital arterial malformations associated with clubfoot.
A report of two cases. Clinical Orthopaedics and RelatedResearch, 167, 160–163.
Honein, M. A., Paulozzi, L. J., Moore, C. A. (2000). Family
history, maternal smoking, and clubfoot: an indication of a
gene-environment interaction. American Journal of Epide-miology, 152(7), 658–665.
Hulme, A. (2005). The management of congenital talipes
equinovarus. Early Human Development, 81, 797–802.Ippolito, E., Farsetti, P., Caterini, R., et al. (2003). Long-term
comparative results in patients with congenital clubfoot
treated with two different protocols. The Journal of Boneand Joint Surgery. American volume, 85, 1286–1294.
Clubfoot 405
Kite, J. H. (1964). The clubfoot. New York: Grune and Stratton.
Laaveg, S. J., & Ponseti, I. V. (1980). Long-term results of
treatment of congenital club foot. The Journal of Bone andJoint Surgery. American volume, 62, 23–31.
Lochmiller, C. L., Johnston, D., Scott, A., et al. (1998). Genetic
epidemiology study of idiopathic talipes equinovarus. Amer-ican Journal of Medical Genetics, 79, 90–96.
Lourenco, A. F., & Morcuende, J. A. (2007). Correction of
neglected idiopathic club foot by the Ponseti method.
The Journal of Bone and Joint Surgery. British volume, 89,378–381.
Miedzybrodzka, Z. (2003). Congenital talipes equinovarus
(clubfoot): A disorder of the foot but not the hand. Journalof Anatomy, 202, 37–42.
Morcuende, J. A., Dolan, L. A., Dietz, R. R., et al. (2004). -
Radical reduction in the rate of extensive corrective surgery
for clubfoot using the Ponseti method. Pediatrics, 113,376–380.
Munshi, S., Varghese, R. A., & Joseph, B. (2006). Evaluation of
outcome of treatment of congenital clubfoot. Journal ofPediatric Orthopaedics, 26, 664–672.
Patel, M., & Herzenberg, J. (2007). Clubfoot. EMedicine.com,
April, 2007.
Philip, J., Silver, R. K., Wilson, R. D., et al. (2004). Late first-
trimester invasive prenatal diagnosis: Results of an interna-
tional randomized trial. Obstetrics and Gynecology, 103,1164–1173.
Ponseti, I. V. (1992). Treatment of congenital club foot. The Jour-nal of Bone and Joint Surgery. American volume, 74, 448–454.
Ponseti, I. V., & Campos, J. (2009). The classic: Observations
on pathogenesis and treatment of congenital clubfoot.
Clinical Orthopaedics and Related Research, 467,1124–1132.
Ponseti, I. V., & Smoley, E. N. (2009). The classic: Congenital
club foot: The results of treatment. Clinical Orthopaedicsand Related Research, 467, 1133–1145.
Poon, R., Li, C., & Alman, B. A. (2009). Beta-catenin mediates
soft tissue contracture in clubfoot.Clinical Orthopaedics andRelated Research, 467, 1180–1185.
Scher, D. M. (2006). The Ponseti method for treatment of con-
genital club foot. Current Opinion in Pediatrics, 18, 22–25.
Shapiro, F., Glimcher, M. J. (1979). Gross and histological
abnormalities of the talus in congenital clubfoot. The Journalof Bone and Joint Surgery. American volume, 61, 522–530.
Shapiro, M. D., Marks, M. E., Peichel, C. L., et al. (2004).
Genetic and developmental basis of evolutionary pelvic
reduction in threespine sticklebacks. Nature, 428, 717–723.Sung, S. S., Brassington, A. M., Grannatt, K., et al. (2003).
Mutations in genes encoding fast-twitch contractile proteins
cause distal arthrogryposis syndromes. American Journal ofHuman Genetics, 72, 681–690.
Sung, S. S., Brassington, A. M., Krakowiak, P. A., et al.
(2003). Mutations in TNNT3 cause multiple congenital
contractures: A second locus for distal arthrogryposis
type 2B. American Journal of Human Genetics, 73, 212–214.Tillett, R. L., Fisk, N. M., Murphy, F. K., et al. (2000). Clinical
outcome of congenital talipes equinovarus diagnosed ante-
natally by ultrasound. The Journal of Bone and Joint Sur-gery. British volume, 82, 876–880.
Toydemir, R. M., Rutherford, A., Whitby, F. G., et al. (2006).
Mutations in embryonic myosin heavy chain (MYH3) cause
Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
Nature Genetics, 38, 561–565.Treadwell, M. C., Stanitski, C. L., & King, M. (1999). Prenatal
sonographic diagnosis of clubfoot: Implications for patient
counseling. Journal of Pediatric Orthopaedics, 19, 8–10.Tredwell, S. J., Wilson, D., &Wilmink, M. A. (2001). Review of
the effect of early amniocentesis on foot deformity in the
neonate. Journal of Pediatric Orthopaedics, 21, 636–641.Veugelers, M., Bressan, M., McDermott, D. A., et al. (2004).
Mutation of perinatal myosin heavy chain associated with a
Carney complex variant. The New England Journal of Med-icine, 351, 460–469.
Wynne-Davies, R. (1965). Family studies and aetiology of club
foot. Journal of Medical Genetics, 2, 227–232.Wynne-Davies, R. (1972). Genetic and environmental factors in
the etiology of talipes equinovarus. Clinical Orthopaedicsand Related Research, 84, 9–13.
Wynne-Davies, R. (1964). Family studies and the cause of con-
genital club foot. Talipes equinovarus, talipes calcaneo-val-
gus and metatarsus varus. The Journal of Bone and JointSurgery. British volume, 46, 445–463.
406 Clubfoot
Fig. 1 Bilateral talipes equinovarus in an infant
Fig. 2 Bilateral talipes equinovarus in an infant with Smith-
Lemli-Opitz syndrome
Fig. 3 Bilateral talipes equinovarus in a fetus with trisomy 18
syndrome
Fig. 4 Radiograph of talipes equinovarus in another infant
Clubfoot 407