ANATOMY AND PHYSIOLOGY 1 (2125)
COMMENTARY Open Access
What a paediatrician should know about congenital clubfoot Daniela Dibello1, Valentina Di Carlo1, Giulia Colin2, Egidio Barbi1,2 and Anna M. C. Galimberti2*
Abstract
Clubfoot is the most frequent congenital malformation of the foot, affecting more than 1–2 subjects per 1.000 newborns. Without appropriate treatment, a child with congenital clubfoot will never be able to walk physiologically with a dramatic impact on the quality of life. In the last decades, different corrective solutions have been proposed, and there is rising scientific evidence that the Ponseti non-invasive method is safe and effective in the treatment of the clubfoot. So, what should a general paediatrician know about this condition and what should he concretely do in the suspect of a congenital clubfoot?
Keywords: Clubfoot, Talipes, Equinovarus, Management, Pediatric
Background The talipes equinovarus congenital foot, also known as congenital clubfoot, is the most common congeni- tal malformation of the foot. One or two, per 1000 newborns are affected [1], with a male to female ra- tio of 1 to 2. This condition is particularly frequent in Developing Countries (80% of overall cases). In 50% of cases, it affects both feet [2]. Without ad- equate treatment children with congenital clubfoot will not walk physiologically and will not be able to live a normal life. Paediatricians have a critical role in the early detection of this condition, starting from the first evaluations of the newborn. The prompt re- ferral to the specialist is crucial for these children to obtain a plantigrade and functional foot. This article aims to provide the general paediatrician with essen- tial knowledges for proper clubfoot management. The scientific literature supports the efficacy of Pon- seti method for this pathology, and we tried to sim- plify and explain the therapeutic process and the general management.
What is clubfoot? Congenital clubfoot is a malformation characterized by a torsion of the longitudinal axis of the foot, secondary to a malalignment of the calcaneo-talar-navicular complex. The foot’s sole is rotated medially and this leads the child to walk on the foot sides (Fig. 1). We can detect four different anomalies; CAVE is a mnemonic tip to re- member them all (Fig. 2):
1. Midfoot cavus deformity (the sole of the foot “looks” upwards).
2. Metatarsus adductus (the fingers point inside with concavity of the medial foot margin).
3. Hindfoot varus deformity (medial deviation of the longitudinal axis of the calcaneus).
4. Hindfoot equinus deformity (extreme plantar flexion).
There are two main types of congenital clubfoot: idio- pathic (80% of cases) and secondary clubfoot (20% of cases). The idiopathic congenital clubfoot is a multifac- torial condition that includes environmental, vascular, positional, and genetic factors. Clubfoot has a tendency to segregate in families: the risk of developing congenital clubfoot is 25% when a first-degree relative is affected.
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* Correspondence: annamachigalimberti@gmail.com 2University of Trieste, Piazzale Europa 1, Trieste, Italy Full list of author information is available at the end of the article
Dibello et al. Italian Journal of Pediatrics (2020) 46:78 https://doi.org/10.1186/s13052-020-00842-3
Several studies and observations suggest the exist- ence of different genes and inheritance patterns in- volved [3]. On the other hand, up to 20% of cases of congenital clubfoot is associated to other anomalies (e.g., myelomeningocele) and could be secondary to a specific genetic condition such as Moebius syn- drome, neurofibromatosis and multiple congenital arthrogryposes [4]. The congenital clubfoot could also show more complex anatomic features that typ- ically present a shorter and more rigid foot, in which there is a marked curvature of the midfoot (metatar- sal equinism) with deep skin folds. In these cases we talk about an “atypical clubfoot” [5]. Clinical features of clubfoot may already emerge in prenatal diagnos- tics, but its ultrasonographic diagnosis appears more likely between the 18th and the 24th week of preg- nancy [6].
How to perform a focused examination? The foot needs to be evaluated in their complexity: general morphology, presence of skin folds, muscu- lar and tendon malleability and flexibility of the
Fig. 1 Frontal and posterior view of congenital idiopathic clubfoot
Fig. 2 Severe clubfoot. legend: severe clubfoot (Pirani 6, Manes-Costa 3)
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deformation. Flexibility is the most relevant element that influences the prognosis: the more malleable and easy to move the foot, the better the prognosis. There are several classification systems of the club- foot, for example Manes-Costa’s classification, Pira- ni’s score (Fig. 3) or Dimeglio classification. These scores are valid prognostic tools and can be used in the follow-up process. A high score at presentation may indicate that a longer and more complex treat- ment will be required. Whenever a congenital club- foot is detected, a complete examination is mandatory to rule out other neuro-musculoskeletal problems, such as signs of occult spinal dysraphism, developmental dysplasia of the hip (DDH) or con- genital torticollis. It is essential to differentiate clubfoot from two
other disorders: postural equino-varus foot and metatarsus adductus. The postural equino-varus is a functional malposition of the foot caused by the de- formed position that the fetus used to hold in the maternal womb. In this case, there may be some
degrees of forefoot adduction, but it will be flexible at the manipulation, and there will be no Achilles tendon contracture. Generally, the postural equino- varus resolves spontaneously; nevertheless, it is good practice to monitor the progression (in premature newborn, a clubfoot can sometimes hide behind a postural equino-varus) [7]. The adductus metatarsus is another common deformity characterized by an adducted forefoot with a curvature of the lateral edge of the foot, but without the other features of clubfoot. Also, this disorder is secondary to the intrauterine postural modeling of the feet and gener- ally resolves spontaneously (casting may be necessary if the deformity is rigid).
Which therapy? Over the decades the surgical treatment of congeni- tal clubfoot has mostly been abandoned, as it was associated with complications, with the final result of a foot that would hardly reached full functional- ity, due to retractions and scars, secondary to the
Fig. 3 Pirani clubfoot- score. legend: this is a 6-item scale, in which every point has a 0 to 1 score (0 if normal, 0.5 if moderate-mild deformity is present, 1 with a severe malformation); the higher the score is, the worst is the deformity
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surgery itself. Although some complex and atypical clubfeet still need surgical treatments at first [7], the available evidence has definitively confirmed the effectiveness of the Ponseti non-invasive method [1, 8, 9]. It consists of gentle manipulations of the foot followed by the application of plaster casts, which are kept in place for 5-7 days, during which muscles and ligaments adapt to the new position. At the end of the 5-7 days period, the cast is removed, the foot (which would become softer and more prone to be moulded) is revaluated and progressively manipu- lated to maintain, through the application of a new cast, a new position [2, 8]. The procedure is re- peated until normal foot alignment is achieved (on average, about five to six plaster casts are required). Percutaneous Achille’s tenotomy (Fig. 4) could be required if equinus deformity persists at the end of the casting phase. The procedure takes about 5 min and consists of a millimetric posterior skin incision through which the tendon section is achieved. After the tenotomy, plaster is applied to allow the tendon to heal in elongation for about 20 days. In order to maintain the correct position of the foot,it is neces- sary to wear, an orthopedic brace until 5 years of age. The brace must be worn for 23 h a day for the first 3 months. Over time, the child may gradually decrease the use of the brace during the day:: after the first months, it is necessary to wear the cast for at least 18–19 h with a gradual reduction in the use of 1 h per month up to a maximum of 12 h without the brace. When the patient begins to walk inde- pendently, the brace is usually only held overnight until the age of five.. Compliance with the splinting
programme is crucial to prevent recurrences [10], and the general paediatrician has a critical role in supporting the family during the brace-phase. To conclude, the treatment of an “atypical clubfoot” is
more challenging and difficult and often requires a higher number of plaster casts.
What management should a paediatrician provide? Radiological diagnostic evaluations, such as foot X- rays or ultrasounds, are usually not necessary in addition to the clinical assessment. In the case of very complex clubfoot, it could be reasonable to evaluate the possibility of an underlying process or other associated malformation. A co-existent hip dysplasia, myogenic torticollis, or other orthopedic conditions should always be ruled out. The paedia- trician also has to evaluate the child to exclude a systemic condition (such as a neuromuscular disease or a syndromic illness – see Table 1). Paediatricians are also in charge of preparing the family for the therapeutic process. Reassurance and providing a direct link to an experienced centre are the first steps. Operational timeliness is essential in terms of outcomes so the newborn needs to be referred to the specialist as soon as possible, e.g., in the very first days of life. The relapses of the clubfoot are not uncommon (about 5–10%), either with conser- vative and surgical methods. Consequently, paedia- tricians should play a relevant role in supporting the family and monitoring compliance with the con- stant use of the orthopedic brace, which represents the main factor in preventing the recurrence of malformation.
Four golden rules for an adequate approach
1. The earlier, the better: if you detect a clubfoot contact a local orthopedic surgeon who can take care of the referral to a clubfoot center, preferably within 48 h but not more than 1 week after the delivery [7];
2. Motivate the parents: to improve the compliance with the use of the brace to minimize the recurrences [7];
3. In case of a severe clubfoot: inform the parents of the increased risk recurrences;
4. Clubfoot is diagnosed through clinical evaluation, and usually, a radiological evaluation is not necessary. The orthopedic surgeon can choose to perform a radiological evaluation in selected cases (e.g., in front of a weak response to treatment or severe relapses) [7].
Fig. 4 Percutaneous tenotomy of the Achille’s tendon
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Conclusion Clubfoot is a highly invalidating condition all over the world; the absence of an adequate treatment will lead to dramatic consequences on the quality of life of the patients, with a high social burden. The rapid recog- nition of deformity and immediate reference to the orthopedic specialist are the key elements for effective treatments.
Acknowledgements The authors thank Martina Bradaschia for the English revision of the manuscript.
Authors’ contributions All authors contributed and approved the final manuscript.
Funding None.
Availability of data and materials Not applicable.
Ethics approval and consent to participate Not applicable.
Consent for publication Obtained.
Competing interests The authors declare that they have no competing interests.
Author details 1Institute for Maternal and Child Health IRCCS Burlo Garofolo, Via dell’Istria 65/1, Trieste, Italy. 2University of Trieste, Piazzale Europa 1, Trieste, Italy.
Received: 27 March 2020 Accepted: 25 May 2020
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under 2 years of age: A systematic review. PLoS One. 2017;12(6):e0178299. 2. Balasankar G, Luximon A. Current conservative management and
classification of club foot: A review. J Pediatr Rehabil Med. 2016;9(4):257–64. 3. Basit S, Khoshhal KI. Genetics of clubfoot; recent progress and future
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Table 1 from B. Sadler, C. A. Gurnett, and M. B. Dobbs “The genetics of isolated and syndromic clubfoot”, Journal of Children Orthopaedics Jun 2019
Condition/syndrome name Known genes
Autosomal Dominant Larsen Syndrome, Recessive spondylocarpotarsal syndrome FLNB
Barth Syndrome TAZ
Bruck Syndrome PLOD2, FKBP10
Carey-Fineman-Ziter Syndrome MYMK
Catel-Manzke Syndrome TGDS
Charcot-Marie-Tooth Disease Type 4D NDRG1
Diastrophic dysplasia SLC26A2
Ehlers-Danlos Syndrome, Musculocontractural type 1 CHST14
Ehlers-Danlos Syndrome, Musculocontractural type 2 DSE
Ehlers-Danlos Syndrome, vascular type COL3A1
Epileptic Encephalopathy AARS
Joubert Syndrome ATXN10, TCTN2
Loeys-Dietz Syndrome TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3
Marfan Syndrome FBN1, TGFBR, TGFBR1, TGFBR2, SMAD3, TGFB2, SKI
Moebius Syndrome PLXND1, REV3L
Multiple Epiphyseal Dysplasia COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2
Multiple Synostosis Syndrome GDF5
Peroxisome biogenesis disorder 7A PEX26
Recessive axonal Charcot-Marie-Tooth Disease LMNA, GDAP1
Recessive Larsen Syndrome, Humero-Spinal Dysostosis, Spondyloepiphyseal dysplasia CHST3
Richieri-Costa – Pereira Syndrome EIF4A3
Santos Syndrome WNT7A
Saul-Wilson Syndrome COG4
Schpritzen-Goldberg Syndrome SKI
TARP Syndrome RBM20
Van Maldergem Syndrome 2 DCHS1, FAT4
Dibello et al. Italian Journal of Pediatrics (2020) 46:78 Page 5 of 6
5. Van HJP B. Challenging clubfeet: the arthrogrypotic clubfoot and the complex clubfoot. J Child Orthop. 2019;13(3):271–81.
6. Faldini C, et al. Prenatal Diagnosis of Clubfoot: A Review of Current Available Methodology. Folia Med. 2017;59(3):247–53.
7. Besselaar AT, Sakkers R. JB et al. guideline on the diagnosis and treatment of primary idiopathic clubfoot. Acta Orthopaedica. 2017;88(3):305–9.
8. Chu A. Treatment of Idiopathic Clubfoot in the Ponseti Era and Beyond. Foot Ankle Clin. 2015;20(4):555–62.
9. Morcuende JA, Dolan LA, Dietz FR, Ponseti IV. Radical reduction in the rate of extensive corrective surgery for clubfoot using the Ponseti method. Pediatrics. 2004;113(2):37680.
10. Staheli L, Ponseti I, Morcuende JA, et al. Clubfoot: Ponseti management. 3th edition, Global HELP Ed, 2009.
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Dibello et al. Italian Journal of Pediatrics (2020) 46:78 Page 6 of 6
- Abstract
- Background
- What is clubfoot?
- How to perform a focused examination?
- Which therapy?
- What management should a paediatrician provide?
- Four golden rules for an adequate approach
- Conclusion
- Acknowledgements
- Authors’ contributions
- Funding
- Availability of data and materials
- Ethics approval and consent to participate
- Consent for publication
- Competing interests
- Author details
- References
- Publisher’s Note
