Long-term Research, New Genetic and MRI Studies Advance Clubfoot Treatment

Treatment for pediatric clubfoot continues to evolve as researchers
cultivate long-term outcomes of conservative and surgical care, identify key
genes that may cause idiopathic cases and conduct MRI studies that may
individualize management of clubfoot and predict future relapses.

According to Jose A. Morcuende, MD, PhD, an orthopedic surgeon
and associate professor at the University of Iowa, many surgeons have reverted
to using the noninvasive Ponseti method of casting clubfeet as an initial
treatment after studies showed better long-term outcomes with the method
compared to soft tissue releases and other extensive surgeries.

“The truth is that treatment of clubfoot is changing, and over the
last 10 years, the Ponseti method is becoming the standard of care,”
according to Morcuende. Since he came to the university as a visiting professor
in 1991, Morcuende has learned from and worked with Ignacio Ponseti, MD.

  Jose A. Morcuende said the noninvasive Ponseti method is an effective treatment for children older than 5 years.
  Jose A. Morcuende said the
noninvasive Ponseti method is an effective treatment for children older than 5
  Image: Jennifer R. Whitmore

However, he noted that some parents of children with clubfoot
deformities may prefer that extensive soft tissue releases be performed as an
initial treatment, which Morcuende warned may cause stiffness in the foot in
the long-term.

“Traditional treatment is to release all the ligaments and tendons
around the foot to put the foot straight, but that will result in stiffness and
pain in the long-term,” Morcuende said. “People still want to perform
this type of major procedure, when the tendency now in orthopedics is to do
minimally invasive surgeries so you do not get too many scars and better

He noted that studies have proven the long-term efficacy of the Ponseti
method and its advantages over initial surgical treatment. In a 50-year
follow-up study, Morcuende and colleagues evaluated 61 feet in 31 patients
treated with the Ponseti method. After treatment, the patients reported high
satisfaction, little or no foot pain and high levels of activity. Steven L.
Frick, MD,
of Carolinas Medical Center in Charlotte, N.C., added that
parents may opt for surgery for their children out of fear that the Ponseti
method will be painful or that casting will cause the foot and leg to be

“Parents need to be educated that it is not painful, and that the
casting itself does not seem to contribute to some of the long-term issues of
clubfoot,” Frick said.

Relapses, subsequent treatment

Wallace Lehman, MD, of New York University’s Hospital for
Joint Disease in New York noted that the method is not a silver bullet for the

“A small percentage of kids who fail Ponseti treatment will need
surgery,” he said. “It is extensive. The release of the foot is a big
incision and a big surgery. It is not always successful and sometimes has to be
repeated, and the feet do not do as well as with the Ponseti technique.”

  Wallace Lehman, MD

No clear reasons exist as to why some clubfoot deformities relapse,
according to Morcuende. Frick recommends seeing patients at 6-month intervals
for the first 5 years “when the foot is rapidly growing” to monitor
for signs of relapse. Repeat casting and Achilles tenotomies or lengthenings
are used for relapses in children younger than 3 years old. After age 3 years,
anterior tibialis tendon transfers can be performed to treat dynamic supination
deformities or supination adduction-deformity of the midfoot and forefoot,
Frick said.

“If we could predict who is going to need a tendon transfer,
potentially we could do it earlier and get them out of braces earlier. It would
be nice to be able to identify early those patients who will not relapse, and
tell children who will not need an anterior tibial tendon transfer that they do
not have to wear braces until they are 4 years old,” Frick said.
“Right now, we do not have a predictive way of identifying those patients.
One risk factor for relapse seems to be weak active everters, but measuring
this and correlating it with relapses has been difficult.”

Some clubfeet can relapse after 4 years of bracing, Morcuende said. The
children in these cases go through a quick growth spurt, in which the heel
chord may become tight and develop a small relapse. Dynamic supination is
another indication of “excessive pull” of the anterior tibialis
tendon, according to Joshua E. Hyman, MD, of Morgan Stanley
Children’s Hospital in New York. Other indications of relapse include the
presence of a syrinx, Hyman said.

Patient noncompliance

Patients also may recur after incorrect application of the Ponseti

“Our difficulty with it is that people say they are using the
technique and fail because they are not doing the technique correctly,”
Lehman said. “They are not applying the casting correctly or not doing the
percutaneous tenotomy at the proper time. There is a recipe of what to do. If
you do not follow the recipe, you are going to lose. Now, we give workshops
two, three, four times a year, [to] teach people how to put casts on

  Christina Gurnett, MD, PhD

Patient noncompliance with braces is another risk factor for relapse,
Lehman said. Children may wiggle out of braces during the night or parents may
remove the brace. In a study conducted by Abdelgawad et al, Lehman noted that
nearly 66% of patients who were noncompliant with orthotic treatment had
recurrences and nearly 33% required more extensive surgery. When the Ponseti
method was accurately applied, according to the researchers, 93% of clubfeet
were corrected without recurrence.

To avoid problems of noncompliance with orthotic treatment, researchers
have invented improved sleeping orthoses, shoes and dynamic bars.

“There are a number of new bracing designs that have come out in
the last 5 to 10 years that have replaced the simple patent leather shoes and
metal bar with more comfortable sandals specifically measured to fit the
foot,” Frick said. “There is also a hinged, dynamic brace that has
been developed that makes it harder for children to push their feet out of the

Matthew B. Dobbs, MD, of the Washington University School of
Medicine noticed many children “had a lot of problems with the static bar
in terms of restriction of movement of the legs leading to brace intolerance
and blisters on the feet from attempts to escape from the brace,” so he
invented a brace with a dynamic bar to allow children to freely move their

“The reason for the design change was to try to increase patient
comfort with the sole goal of trying to get parents to be more compliant with
the brace,” Dobbs said. “The key to preventing relapse is to improve
bracing tolerance.”

  After a 5-year follow-up, infants with idiopathic clubfoot treated with the Ponseti method produced better results than counterparts treated surgically.
  After a 5-year follow-up, infants
with idiopathic clubfoot treated with the Ponseti method produced better
results than counterparts treated surgically.
  Image: Herzenberg JE

In a study by Chen and colleagues that examined the efficacy of the
Dobbs brace, 7.1% of 28 patients were noncompliant with the brace compared with
41% who used a traditional brace.

Neglected clubfoot

Ponseti treatment for children older than 5 years is as effective as
treatment for younger patients, according to Morcuende, Frick, Hyman and

“It does take a few more casts and they may require some surgical
procedures to help optimally align the foot,” Hyman said. “But, for
many of these children, we have been able to avoid the extensive bony
operations. Most children born in the United States do not have neglected
clubfoot by age 5, but we certainly see children who have feet that have
recurred and then of course, are slow to be corrected or are not fully
corrected. If these children have not had extensive surgery, they can still be
successfully treated with the proper application of the Ponseti

The casting is still in evolution for older children (older than 5 years
of age), according to Morcuende, who reports people are using short-leg and
long-leg casts to treat these older patients in Brazil and India.

Genetic causes of clubfoot

Christina Gurnett, MD, PhD, a pediatric neurogeneticist at
Washington University School of Medicine in St. Louis, Mo., who along with her
collaborator Matthew B. Dobbs, MD, identified two new gene abnormalities
associated with clubfoot — PITX1 and TBX4 — which were found on
chromosome 5 and 17.

“Families that have a strong genetic component of clubfoot only
make up about 20% to 25% of all kids with clubfoot,” Gurnett said.
“We are tackling this by trying to understand familial cases and then
cases that happen out of the blue.”

Gurnett and colleagues studied 60 children with a family history of
clubfoot. The team discovered chromosomal deletions and duplications that
involve PITX1 and TBX4 transcription factors. These transcription factors turn
on other genes that are responsible for normal limb development in the first 12
to 15 weeks of gestation. Further studies are required to determine which genes
are activated by these factors.

“One thing that clinicians have noted for a while is that the calf
is smaller in children with unilateral clubfoot, and it seems to go hand in
hand that children with these genetic defects are missing many tissues that
should have developed earlier when these transcription factors are acting on
the limb bud,” Gurnett said.

The environment alone or the environment interacting with genes may also
trigger clubfoot, according to Gurnett. Smoking and diabetes are risk factors
for clubfoot and these “environmental factors may play more of a role in
genetically susceptible individuals,” she said.

Gurnett suggested that in the future, better surgical or bracing
techniques may evolve from knowing how these genetic abnormalities impact
muscles in lower limb development.

MRI studies

Dobbs is working to translate the genetics findings into improved care
for clubfoot by using MRIs to examine limb structure in patients with the
genetic mutations Gurnett noted. In his imaging studies, Dobbs found
hypoplastic limbs with a loss of muscle bulk in many of the patients, that may
help explain why some patients with clubfoot tend to relapse. Once he finds
which muscles are deficient, Dobbs says he and other orthopedists can
potentially offer individualized treatments such as tendon transfers resulting
in improved outcomes.

Another early treatment method Dobbs is exploring is the use of
electrical stimulation to improve muscle quantity and quality in those patients
who have clinical significant deficiencies.

“The goal of electrical stimulation is to cause the muscle to
contract and, as a result, gain strength,” Dobbs said. “This gain in
strength may allow patients to maintain better correction and/or minimize the
risk of relapse.”

Dobbs hypothesizes that in the future, orthopedists may be able to
perform MRIs on clubfoot patients and with that information in combination with
knowledge of genetic risk factors be able to predict relapses before they
occur. — by Renee Blisard

For more information:

  • Abdelgawad AA, Lehman WB, van Bosse HJP, Scher DM, et al.
    Treatment of idiopathic clubfoot using the Ponseti method: minimum 2-year
    follow-up. J Pediatr Orthop B. 2007; 16(2):98-105.

  • Chen RC, Gordon EJ, Luhmann SJ, et al. A new dynamic foot
    abduction orthosis for clubfoot treatment. J Pediatr Orthop. 2007;

  • Dobbs MB, Nunley R, Schoenecker PL. Long-term follow-up of
    patients with clubfeet treated with extensive soft-tissue release. J Bone
    Joint Surg Am
    . 2006; 88(5):986-996.

  • Lovell ME, Oji DE, Dolan LA, Ponseti IV, et al. Health and
    function of patients with treated idiopathic clubfeet: 50 year follow-up study.
    Presented at the 2006 Annual Meeting of the Pediatric Orthopedic Society of
    North America. May 6. San Diego.


Chu, Frick, Gurnett, Hyman, Morcuende and Lehman
have no relevant financial disclosures. Dobbs is a paid consultant for and
receives royalties from D-Bar Enterprises.

Select cases need surgery

There have been several studies published in the last 16 years. The two
most critical ones were those out of Iowa by Drs. Coopers and Dietz and, more
recently, the one out of Rome by Drs. Ippolito, Farsetti and colleagues, which
have both shown outstanding long-term results in adults who had been treated as
children with the Ponseti technique. The Ippolito article was the first to
compare similar cohorts of patients who had been treated surgically prior to
their institution of the Ponseti technique and clearly demonstrated superior
results with the Ponseti technique. The major differences between the two are
that children treated with the Ponseti technique are much less likely to have
arthritis, severe stiffness of the foot and ankle, and overall, are
functionally superior to those treated surgically.

  David Scher, MD
  David Scher

There are still select cases where surgery is necessary, and these are
typically children who do not have a typical idiopathic clubfoot. These
children may have muscle imbalance or may fit under the category of teratologic
clubfoot. There are well-respected centers around the country that believe that
they are able to achieve successful corrections in every child with every kind
of clubfoot regardless of the etiology. However, the research that has been
done on teratologic clubfeet and neuromuscular clubfeet, like those in children
with spina bifida, does not truly bear that out.

Sometimes after children have been successfully treated with the Ponseti
technique, they may develop a recurrence of some deformity, which is
successfully treated with minor surgeries such as a tibialis anterior tendon
transfer or tendoachilles lengthening. Unlike posteromedial releases performed
on infants, these surgeries are not associated with late stiffness or
arthritis. We have found, however, that parents can clearly decrease the risk
of having a recurrence, and subsequently needing these surgeries, by strict
adherence to the bracing protocol.

— David Scher, MD

Associate professor of clinical orthopedic surgery

Weill Cornell Medical College

Associate attending orthopedic surgeon

Hospital for Special Surgery, New York City

Disclosure: Scher has no relevant financial

Ponseti is the ‘gold standard’

The often cited goal in the treatment of idiopathic clubfoot is to
safely and reliably correct the deformity to achieve a functional, pain-free,
plantigrade foot with good mobility, no callosities and allow the patient to
wear ordinary shoes. There is no better way to realize these goals than by
using the method described by Dr. Ignacio Ponseti in the early 1960s.

  Lewis E. Zionts, MD
  Lewis E.

Beginning in the early 1970s, extensive surgical release of the joint
capsules and elongation of thee tendons had gained widespread popularity to
treat clubfoot. While the short-term results were reported as satisfactory,
many feet were overcorrected or undercorrected. Even the best outcomes
demonstrated some stiffness of the ankle and subtalar joints. These operations
were not without complications including infection, wound dehiscence and, on
occasion, neurological or vascular problems. Secondary deformities were not
infrequent, including dorsal subluxation of the navicular, dorsal bunion and
avascular necrosis of the talus. Furthermore, many of these patients required
revision surgery to rerelease joints (causing further stiffness), fuse joints
or realign the bones. The reported long-term functional outcome of operative
release surgery has also been disappointing with the late onset of stiffness,
pain, residual deformity and disability.

Beginning at the turn of this century, spurred on by the accessibility
of the Internet and some very dedicated clubfoot parents, the Ponseti method
received a second look. Over the past decade, reports from centers worldwide
have reported excellent short-term outcomes using the Ponseti method to treat
idiopathic clubfoot. The technique is safe and reliable. The method maintains
as much strength and mobility of the foot as possible. Long-term outcome
studies have shown excellent results.

The one remaining obstacle left to overcome using the Ponseti approach
is the problem of relapse, which may occur in approximately 40% of patients.
However, relapses are easily addressed by a short period of manipulation and
cast application with resumption of bracing. If repeated recurrences are a
problem, Dr. Ponseti recommended an anterior tibial tendon transfer that
maintains correction of the foot without violating the joints, thereby
maintaining good foot mobility while not affecting the long-term outcome.

— Lewis E. Zionts, MD

Clinical professor of orthopaedic surgery

Geffen School of Medicine

University of California, Los Angeles

Disclosure: Zionts has no relevant financial

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