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A. Jester et al.
c
d
Fig. 8.5 (continued)
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a
b
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Fig. 8.6 Case 4: female, CSPD, Wall and Goldberg Type 2A.Initial radiographies (a). Actual radiographies left side
(b) and clinical presentation (c)
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A. Jester et al.
c
Fig. 8.6 (continued)
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vol. 9. St Louis: Mosby; 1974. p.144–56.
Thumb Polydactyly
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Christiannevan Nieuwenhoven
andStevenHovius
9
Abstract
Thumb polydactyly or radial polydactyly is a
congenital hand difference in which the
patient presents with an extra digit at one or
two thumbs. Together with syndactyly, clinodactyly and camptodactyly, thumb polydactyly
is one of the most common congenital upper
extremity differences.
To structure the variable phenotypic presentations of thumb polydactyly, several classication systems can be used. The most
widely used is the Wassel classication, followed by the Rotterdam classication including different triphalangeal thumb phenotypes
as well. Later evaluation of postoperative
results of the different types of thumb polydactyly will be inuenced by the choice in
classication made.
In this chapter, the examination at rst consultation is described since it is important to
perform this systematically, not missing out
on less conspicuous differences or even differences on the contralateral hand.
However seen as a relatively simple difference, its treatment can be very complex. The
goal is to obtain a functional thumb, without
instability and deviation, and is aesthetically
close to normal. Except for the abnormal osse-
C. van Nieuwenhoven (*) · S. Hovius
Erasmus Medical Center Rotterdam,
Rotterdam, The Netherlands
e-mail: c.vannieuwenhoven@erasmusmc.nl
ous structures, exor and extensor tendons can
have aberrant insertions and connections. The
primary operation is the major one, addressing
to all differences and avoiding corrective operations later in life.
Keywords
Radial polydactyly · Thumb · Congenital
Surgical treatment
9.1 Introduction
Thumb polydactyly, also radial polydactyly,
refers to the disorder in which patients have an
extra digit at the thumb aspect of the hand on at
least one extremity. Polydactylous hands and
footprints have been found when studying rock
art and petroglyphs, some dated 1000. The
rst time that polydactyly was referred to in literature was in the Old Testament, where in a
battle in Gath, a giant had six ngers on each
hand, and six toes on each foot. A Dutch anatomist and alchemist, Theodor Kerckring, rst
described the difference in the seventeenth century. Since then, many reports have been made on
polydactyly. The preaxial polydactyly can be
separated into ve types according genetic literature: thumb polydactyly; polydactyly of a triphalangeal thumb; polydactyly of an index nger;
polysyndactyly and hallux polydactyly [1]. For
this chapter, the focus will be directed toward the
© Springer Nature Switzerland AG 2023
G. Pajardi (ed.), Pediatric Hand Surgery, https://doi.org/10.1007/978-3-031-30984-7_9
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C. van Nieuwenhoven and S. Hovius
thumb polydactyly. Polydactyly with a triphalangeal thumb will be described in the chapter on the
triphalangeal thumb.
According to the OMT classication, poly-
dactyly of the hand is a Malformation with an
Abnormal axis formation/difference of the
Handplate, Radioulnar axis (2iii) [2]. Previously,
polydactyly was categorized as radial, central
and ulnar polydactyly in the modied Swanson
classication in group III, Duplications as Radial
polydactyly including triphalangeal thumb [2]. In
the OMT classication, ulnar polydactyly has
been categorized in the same group as the radial
polydactyly, whereas the central polydactyly was
proposed to be part of the unspecied axis iii.
complex recently by Baas etal. [3].
Together with syndactyly, clinodactyly and
camptodactyly, thumb polydactyly is one of the
most common congenital upper extremity differences seen by dedicated congenital hand
specialists.
The incidence of polydactyly depends on the
population studied and the denition used.
Region, ethnicity and combined numbers of all
polydactylies, or only radial or ulnar-sided polydactyly, provide very different incidences in published series. The incidence is estimated to be
0.3–3.6 per 1000 live births and 1.6–10.7 per
1000in the general population [4, 5], with males
twice as often affected as females. Variability in
incidence is based on the population studied and
the denition used for thumb polydactyly. It is
believed that the incidence of thumb polydactyly
with or without a triphalangeal component is
highest in people of Asian descent. Thumb polydactyly represents up to 90% of all polydactyly
cases in the Chinese population [6].
In a recent Swedish population study, the
thumb polydactyly is mentioned to have a relative incidence of 2.3 per 10,000 live births. The
thumb polydactyly without a triphalangeal component was predominantly present in the male
population (58%) with 56% on the left side and
15% bilaterally in this study [4]. In approximately 24% of cases, thumb polydactyly has an
inherited pattern. Associated anomalies were
seen in 22% of cases [4]. In our patient popula-
tion, preaxial polydactyly characterized according to the OMT classication [2] was seen in 124
out of the 954 diagnoses with 29% bilaterally
affected patients and 39% only right side affected
and 32% only left side affected hands.
Thumb polydactyly mostly occurs as an isolated and sporadic anomaly, however, in the
Online Mendelian Inheritance in Man (‘OMIM’)
database, it is mentioned as part of over 125 distinct syndromes and phenotypical associations,
including Holt–Oram syndrome, Townes–Brocks
syndrome and Fanconi’s anaemia. In our population, cases were additionally associated with craniofacial syndromes, Greig cephalosynpolydacyly,
Nager, Klippel–Feil and VACTERL. In the
Human Phenotype Ontology (HPO) database,
preaxial hand polydactyly as a patient’s feature is
related to 59 different diagnoses. Therefore, multidisciplinary knowledge on the phenotypes and
syndromes is in our opinion mandatory to treat
these patients with a high quality of care.
9.2 Embryology andGenetics
CULAs arise during upper limb development,
which takes place between the fourth and eighth
weeks of gestation. During these 4weeks, a fully
functional hand is formed along three axes of
development: The proximal–distal axis, the dorsal–ventral axis and the anterior–posterior (or
‘radial–ulnar’) axis. Growth and differentiation
of tissue along the axes are orchestrated through
genetic and molecular signalling pathways,
which arise from areas of specialized cells in the
limb bud called ‘signalling centres’ [7–9].
In the development of polydactyly, the radial–
ulnar axis is the most important. This axis is
formed along the Zone of Polarizing Activity
(‘ZPA’), where Sonic Hedgehog (‘SHH’) proteins regulate ulnarization and widening of the
limb (Fig.9.1) [10]. Disruption of SSH signalling
pathways may result in radial polydactyly.
Moreover, mutations of SHH and GLI3 are associated with various phenotypes of radial polydactyly [11–13] and triphalangeal thumb [14–18].
The complex genetic and molecular interactions
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Fig. 9.1 Rotterdam classication for polydactyly
result in a highly variable clinical presentation of
radial polydactyly, ranging from a rudimental
skin tag to very complex triplications of the
thumb.
9.3 Patient Presentation
The disorder is easily detected after birth leading
to a cosmetic and functional concern with the
parents and if not treated, to cosmetic concern of
the affected child. Additionally, depending on the
level of the duplication, it can cause functional
impairment. Most parents or patients will pursue
surgery for restoring functional anatomy,
however, affected by abnormal embryological
development of osseous structures and soft tissues, normal aesthetic and functional results are
not to be expected. Results on functionality and
aesthetics with regard to manual ability, participation and quality of life in patients with thumb
polydactyly are scarce.
Nowadays, a growing number of polydactylies are seen with increasing ultrasound techniques and experience of examiners. Therefore,
more parents might be referred to a congenital
hand team to have more information on the difference and possible associated syndromes.
9.4 Classication
As mentioned before, polydactyly can be
arranged according to a genetic classication into
ve types or classied as a part of the congenital
hand differences in the OMT. These classications might give information on the genetic and/
or embryologic nature of the difference, but it
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C. van Nieuwenhoven and S. Hovius
doesn’t give information on the phenotype and
possible related surgical treatment options.
In order to structure the variable phenotypic
presentation, thumb polydactyly cases can be categorized using different types of phenotypicbased classication systems. In choosing such a
classication system, later evaluation of the
results of the different types of thumb polydactyly is inuenced by this choice.
Since soft tissue anomalies are harder to visualize, most classication systems are based on
osseous conguration, which can be shown using
X-rays. These classication systems play an
important role in communication between specialists, in the evaluation of treatment outcomes,
and in supporting clinical decision-making.
However, in using the osseous-based classication systems, one should not overlook the additional soft tissue differences.
The most widely used system for thumb polydactyly is the Wassel classication [19]. Seven
types of osseous congurations are described:
types I–VI represent distal-to-proximal levels of
thumb polydactyly, while type VII represents
thumb polydactyly with a triphalangeal component. The three most common types of radial
polydactyly are type IV (30–46%), type II
(9–25%) and type VII (7–32%), with varying
occurrence across different case series, e.g. areas
in the world.
This classication is easy to apply, but the
clinical relevance is limited by the inability to
classify surgically important features of radial
polydactyly (e.g. diverging components or hypoplasia), features that inuence outcome. This has
led to the introduction of many alternative classication systems [20, 21], such as the Rotterdam
classication for radial polydactyly [20], integrating elements of the Wassel [19], BuckGramcko [22], and Upton [23] classication, into
an all-embracing classication system for thumb
polydactyly including triphalangeal components
and triplications (Fig.9.1) [24].
In a study, incorporating patients from two
large European congenital hand units (Hamburg
and Rotterdam), the occurrence of the different
types of thumb polydactyly was investigated,
evaluating a total of 520 available X-rays from
both units from the period 1980 to 2012. Both the
Wassel and Rotterdam classications were
applied. A comparative historical cohort was
extracted from the literature, pooling 1723 eligible cases of thumb polydactyly to describe the
frequency of the different types reported in the
literature. A large part (40%) of the studied population could not be classied using the Wassel
classication, compared to 6% studied in the literature. However, all study cases could be classied using the Rotterdam classication. All the
unclassiable cases had aberrant components:
triphalangeal, deviating and hypoplastic. This
implies that the Rotterdam classication is more
suited for describing the entire spectrum of
thumb polydactyly and guidance in surgical treatment. Both classications show a good overall
intra-observer and fair inter-observer reliability
regardless of the experience of the person using
the classication system.
According to these results, the Rotterdam
classication is best suited for research purposes,
even if an inexperienced observer performs analysis. However, for daily practice in non-research
environment, the use might be too
time-consuming.
9.5 Physical Examination
At rst consultation, following medical history
and general physical examination, both upper
limbs are examined, and if indicated or a syndrome is expected, the lower limbs as well. If the
ngers are normal, with normal hand and nger
creases, and a normal hypothenar region, the
examination can focus on the radial side of the
hand. In our experience, it is worthwhile to perform this systematically, as quite often more
anomalies are present. Don’t be distracted by the
major difference, overlooking the less major
differences.
The examination is performed systematically.
The thenar musculature varies widely from nor-
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mal to severely hypoplastic. In Wassel I and II,
the thenar musculature is mostly normal, in contrast to Wassel V, VI and VII.
Hypermobile joints should always be related
to the other joints in the hands. It is important to
look for creases on both the dorsal and palmar
sides. If creases are present, then an active movement in that particular joint can be expected.
The CMCJ in polydactyly can be normal, stiff
or hypermobile. If abnormalities in the CMCJ are
present, they are mostly encountered in the more
proximal polydactylies. If polydactyly is situated
at the CMCJ, the MCPJ in the best thumb can be
near normal. In these cases, the movement is
dependent on the presence of a syndactyly
between the duplication.
Depending on the location of the polydactyly,
the MCPJ can be stiff, normal moving or hypermobile and hypoplastic. For instance, in a polydactyly involving the MCPJ, both thumbs move
as a block. In most of these cases, the radial-sided
thumb is hypoplastic and stiff, and the ulnar
thumb is the better one.
Finally, the IPJ can present with normal movement, stiffness or hypermobility. If the duplication is at the IPJ, both parts can move as a block.
The range of motion in those cases is typically
less than in a normal IPJ.In an asymmetric duplication at the IPJ, the best-developed part usually
moves better.
Normal examination includes extrinsic and
intrinsic movement, but difcult to perform in a
newborn. However, exion and extension can be
evaluated, as well as the presence of palmar
abduction. In radial polydactyly, the exor pollicis longus is Y-shaped in the majority of cases,
with a less developed tendon to the most hypoplastic thumb. Therefore, exion can be seen
simultaneously in both thumbs. Moreover, the
exor tendon can have its insertion on the radial
side for the ulnar thumb, and ulnar side of the
radial extra thumb, causing a more deviating exion in the IPJ.This is especially true for the type
4 and more proximal polydactylies.
The extensor apparatus is usually less developed or absent in the more hypoplastic thumb. It
can be Y-shaped as in the exor and asymmetri-
cally attached, therefore, deviating the distal part.
The ngertips can be either normal or asymmetric. The asymmetric side is typically found on the
opposing sides of the two thumbs. The nails are
smaller and asymmetrical in most cases. The rst
web is nearly always normal in the distal duplications. In more proximal polydactylies, the rst
web can be narrower than the normal contralateral side.
9.5.1 Patient Selection
Polydactylies are usually treated surgically.
Functional impairment can vary from slight to
severe, depending on the extent of the deformity.
Polydactylies can be a nuisance in, for example,
shaking hands, putting hands in pockets or narrow spaces and in wearing gloves. However, most
parents visit the outpatient clinic with their child
for aesthetic and social reasons. In patients with a
syndrome with serious concomitant disease, surgery can be delayed or even be avoided.
9.5.2 Treatment/Surgical Technique
Thumb polydactyly is seen as a relatively simple
difference; however, its treatment can be very
complex. The aim of surgical intervention in
thumb polydactyly is to obtain a functional
thumb, without instability and deviation, and is
aesthetically pleasing or acceptable. Except for
the abnormal osseous structure with joint incongruence, the exor and extensor tendons can have
aberrant insertions, inuencing the line of pull
with regard to future deviations. In addition,
aberrant and intricate connections may exist
between exors and extensors, affecting thumb
movement. In the more proximal polydactyly
types, intrinsic muscles might be hypoplastic or
absent. In most cases, the thumb is inadequate in
size, width and nail development compared to the
non-involved opposite side in unilateral cases.
However, it is difcult to address these latter
hypoplastic features when reconstructing a
thumb polydactyly.
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C. van Nieuwenhoven and S. Hovius
Taking into account all the features of reconstruction in thumb polydactyly surgical
approaches have been rened over the years.
Different techniques to treat thumb polydactyly
can be identied.
The timing of surgery is not xed at a certain
age. Surgery is recommended at the end of the
rst year of life by many authors, as it is important to be able to identify the structures properly
and to minimize the anaesthetic risks. In a recent
study, patients operated at an age older than
2years had signicantly better results than children before the age of 1year regarding patientreported scores. No such difference was found
for patients operated between ages 1 and 2years
[25]. This suggests that timing might be best after
the age of 1 year only taking the results into
account, and even later if anesthesiologic and
psychological risks are taken into account.
In the end, most essential for good long-term
good results is the knowledge of pathoembryology and patho-anatomy [26, 27]. Try to
visualize aberrant anatomy without too much dissection! In general, in evaluating results, experienced surgeons are reported to have better results
in outcomes [25].
9.6 Operative Treatment
A number of principles in the treatment of thumb
polydactyly can be listed in Table9.1. The most
versatile and widely applied surgical treatment
for thumb polydactyly is the resection and reconstruction technique. The majority of cases can be
treated using this technique, indicated whenever
one of the extra thumbs is better developed than
the other (oating-type thumb polydactyly
excepted). In most cases, the ulnar thumb is better developed and the radial thumb is resected.
Resection of the radial thumb has the added benet of preserving the ulnar collateral ligament,
playing a key role in stabilizing the MCPJ during
pinch grip and prehension. Furthermore, the scar
will be situated dorsally or on the radial side of
the remaining thumb, not impeding with sensation of the ulnar-sided pulp of the thumb. Several
techniques have been described to improve
Table 9.1 Principles in treating thumb polydactyly
• “Make one thumb out of two. It is not a simple
excision of one”
• Decide which thumb to be kept
• Preserve tendons, ligaments and skin of the discarded
thumb to align, balance and augment the residual
thumb
• Perform as much correction as possible and
necessary during the rst operation on both soft
tissues and bones
• Be aware of and search for less obvious anatomical
anomalies
• Align articular surfaces as axial and as congruent as
possible by transverse and longitudinal osteotomies
• Perform ligament reconstructions or releases
• Balance tendon insertions
• Adjust skin cover as accurately as possible. Excess of
skin will not disappear in time
• Postoperative dressings should be meticulously
applied, protect the reconstruction and resistant to
removal by the child
appearance and function, as well as attention to
pulp size and girth [28], separate techniques for
type III reconstruction [29], support of collateral
ligaments in type IV [30] and rebalancing of tendons [31].
When analyzing literature on the long-term
outcome of thumb polydactyly treatment, only
few reports are found with overall outcome [32–
34] and one only on thumb size and appearance
[35]. In a recently published thesis, an extensive
analysis was performed on the outcome of surgically treated thumb polydactyly [36]. Most
important lessons were: reporting outcome starts
with the implementation of a reliable and all
comprising classication for thumb polydactyly
regarding the pre-operative situation; and the use
of a reliable and clinically weighted outcome
assessment system [37–39]. If analyzed according to these conditions, type IV had worse functional outcomes than type II and IV-Tph if the
thumb was operated only once. However, if multiple surgeries were needed, an overall worse outcome is to be expected. Furthermore, overall
outcome signicantly improves when the rst
operation is performed by an experienced surgeon, specialized in congenital upper limb anomalies [25]. Regarding the Bilhaut–Cloquet
procedure, this technique is not worthwhile in
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