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trolling aspects of mesenchyme cell differentiation [15]. In animal models, disruption of the
AER and its signaling pathways causes transverse deciencies, including symbrachydactyly
[16–18].
Although limb development occurs in a proximal-distal manner, there may be some regenerative capacity of distal limb elements after a partial
or complete insult to the AER that may result in
the characteristic “nubbins” or rudimentary digits
seen in symbrachydactyly [18, 19].
7.4 Classication
The International Federation of Societies for
Surgery of the Hand (IFSSH) has adopted the
OMT classication system [20]. In the OMT system, symbrachydactyly is categorized as a failure
of formation of the proximal-distal axis, which
can involve the entire upper limb or the hand
plate [21]. In the previous IFSSH system, symbrachydactyly was classied under I (failure of
formation), II (failure of differentiation), and V
(undergrowth) categories [22].
Over the years, several classications of symbrachydactyly have been described: The rst was
Pol in 1921 who classied symbrachydactyly
into two groups: those with and without a pectoral muscle defect [3]. Blauth and Gekeler [23]
rened Müller’s original concepts [24] into a
classication system for symbrachydactyly that
included 4 phenotypes, and is the most commonly used classication:
1. Short nger type (brachymesophalangia):
presence of thumb and four short coalesced
stiff digits that may have one or more missing
phalanges, most often the middle.
2. Oligodactylic type (atipical cleft hand): the
central part of the hand is aplastic with a relatively intact thumb and fth digits.
3. Monodactyly type: the thumb is present; the
ngers are absent or aplastic.
4. Peromelic type: adactyly with complete
absence of all digits at the metacarpal level
with rudimentary nubbins (Fig.7.2).
Yamauchi and Tanabu [25] described a more
elaborate classication of 7 types based on the
morphological and radiographic bony deciency
but not providing guidance for treatment.
Foucher [26] modied the Blauth classication. He subdivides the four groups into subcate-
Fig. 7.2 Blauth and Gekeler classication
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Table 7.1 Foucher’s Classication
Type Features Thumb Ulnar digit Interventions
I All bones and digits present,
brachydactyly and
syndactyly
II A
≥2 ngers. Normal thumb,
hypoplastic ngers
IIB Functional border digits,
variable central nubbins
IIC “Spoon hand”, thumb
conjoined with hypoplastic
ulnar digit
IIIA Monodactyly Normal Absent Vascularized toe-to-hand transfer
IIIB Monodactyly Hypoplastic and/
I VA Peromelic, wrist mobility Absent Absent Surgery not indicated
IVB Peromelic, no wrist mobility Absent Absent Surgery not indicated
Normal Bones present,
brachydactyly or
syndactyly
Normal Hypoplastic,
syndactyly
Normal Present, variable
hypoplasia and
stability
Present
(±stability)
or unstable
Hypoplastic,
clinodactyly
Absent Variable, vascularized toe-to-hand
Syndactyly release
Non-vascularized toe phalanx
transfers, ablation, or stabilization
Surgery rarely indicated
Variable
transfer, thumb stabilization,
thumb lengthening
E. Rosanda et al.
gories describing the functionality of thumb and
ulnar digit and giving the indication for surgery
(Table7.1).
7.5 Dierential Diagnosis
Symbrachydactyly can be confused with other
different hand conditions. The most difcult differential diagnosis is with the constriction ring
syndrome. There are some elements that differ
within these two malformations.
In the constriction ring syndrome:
• fenestrated syndactyly (acrosindactily) may
be present
• nails are absent in the amputated nger
• the upper limb isn’t hypoplastic
• there are the signs of a constriction band
• more than one limb is typically involved
Central deciency is another differential diag-
nosis: symbrachydactyly was previously called
“atypical cleft hand” due to morphological similarities [27]. Central deciency is an autosomal
dominant condition in which the central rays are
absent, it is usually bilateral and often associated
with cleft feet. Other conditions in the differential diagnosis of symbrachydactyly include Apert
Syndrome, ulnar longitudinal deciency, and
hypodactyly [28].
7.6 Treatment
The treatments of symbrachydactyly vary based
on the degree of malformation and family needs.
It is important at the beginning of the clinical
relationship with the family to discuss all the possible surgical and nonsurgical treatments and the
correct timing of these. It is known that a correction of the grip must be in the early childhood for
maximizing function. Many manual skills are
developed by the age of 3, including pinch [29,
30].
Finally because the malformation is usually
unilateral sometimes families choose to simply
await development and observe how their child
progresses.
7.6.1 Nonoperative Treatment
In symbrachydactyly, nonoperative interventions
are hand therapy, psychomotricity, and prostheses. An occupational and psychomotricity therapist can help children with unilateral
malformations to increase their ability in the
activities of daily life while increasing selfesteem and gaining independence.
In symbrachydactyly, the use of prostheses is
limited, primarily because it is typically unilateral and the prostheses cannot provide sensation.
In bimanual activity, children prefer to use the
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affected hand to assist the contralateral hand particularly if it has wrist motion and/or at least one
sensate digit.
In adactylous hand with no wrist mobility, the
prostheses may be helpful because they provide a
surface to grip against. There are passive hand
prostheses and myoelectric hand prostheses.
Without surgical intervention, these are the
ability levels that children typically develop [31]:
• Adactylous hand: unable to perform single-
hand prehension. Assist the contralateral
extremity in performing tasks, stabilizing
objects on a at surface or against the body,
and using the wrist to hook or hold objects.
• Monodactylous hand: usually has a thumb
and may have a normal palm width with intact
metacarpals. May have more stable bimanual
hand tasks and may be able to hook and press
with the nger. The child may be able to pinch
between the thumb and palm.
• Bidactylous hand: usually has a thumb and a
single ulnar digit. The ulnar digit, if long
enough and stable, will provide a pinch against
the thumb, and these children usually can hold
objects in the hand and perform 2-nger or
palm pinch. They cannot perform cylindrical
pinch and grip strength is usually weak com-
pared with the uninvolved side.
• 3-functioning-digit hand: usually have tip,
palm, and cylindrical grip with more strength
compared with the 2-ngered hand, though
power grip may be limited.
• 4- and 5-digit hands: have greater power grip
than other types. The ngers may have unsta-
ble interphalangeal joints but are capable of
single-hand prehension.
7.6.2 Operative Treatment
The treatment of symbrachydactyly depends on
the clinical appearance, function, radiological
ndings, and perceived patient needs. The specic aspect of symbrachydactyly that the treatment addresses can be used to help categorize the
surgical treatments: nubbins, syndactyly and web
contracture, brachydactyly, digit instability,
thumb in the plane of the hand, and absence of
ngers.
7.6.2.1 Nubbins
Symbrachydactyly can result in severely hypoplastic digits, referred to as nubbins. They consist
of a small balloon-like digit with a hypoplastic
nail and a small bit of cartilage or distal phalangeal bone connected to the hand by a relatively
narrow skin sleeve.
The nubbins can cause difculties with respect
to nail care and may impede prehension if they
are located in an area of palmar contact or web
space. Some parents choose to remove the abnormal appearing digits some not, because they are
considered as ngers by the child (Fig.7.3).
7.6.2.2 Syndactyly
Syndactyly and web contractures are treated to
improve independent digital function, grasp span,
and appearance. Depending on the type of symbrachydactyly, the syndactyly could be complete
and incomplete for example usually in the Type I
(Blauth and Gekeler) is incomplete. The syndactyly release could be challenging because vessels
are often hypoplastic or have an abnormal course.
For incomplete simple syndactyly of the digits,
twofold or fourfold Z-plasty is usually sufcient
[32]. For complete syndactyly, the choice of ap
depends on surgeon preferences. We prefer Flatt’s
technique [33] (Fig.7.4).
In cases of tight syndactyly, to allow the skin
release and limit the need for skin grafting, the
authors use tissue distraction performed using an
external distraction device (Cube-Fix distractor)
developed for Apert Syndrome [34, 35]. The
device is referred to as the “magic cube” since the
distraction results in extra skin that makes subsequent separation easier (Fig.7.5).
7.6.2.3 Web Contracture
Release of the web space in symbrachydactyly
can be more challenging than similar releases
performed for other congenital disorders due to a
lack of local skin available. Usually, the web
space may benet from deepening and widening.
Priority is given to the rst web space to facilitate
the thumb function. A 4-ap z-plasty is useful for
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Fig. 7.3 symbrachydactyly: nubbins
E. Rosanda et al.
Fig. 7.4 Syndactyly release with Flatt’s technique: (a) preoperative photograph of type I symbrachydactyly. (b)
Preoperative planning of syndactyly release, Flatt’s ap is used for 2° web space
a
b
Fig. 7.5 Cube-Fix distractor as the rst step of tight syndactyly release: (a) preoperative photograph of type I sym-
brachydactyly, dorsal view and (b) palmar view; (c) and (d) postoperative result of positioning of cube-x
ac
ac
gh
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deepening the rst web space; for widening the
rst web space the authors prefer jumping man
ap (5-ap z-plasty). In more severe cases, a dorsal rotation ap will bring additional skin into the
rst web [36]. Finally, there are more complex
advancement techniques [37–39]. After the skin
incision is important to release the fascia and
tight soft tissue. The other web spaces can be
treated with multiple Z-plasties, jumping man
ap (5-ap z-plasty), Ostrowsky aps, and more
complex advancement techniques [40–42].
Deepening web spaces greater than the normal
level gain the illusion of a longer digit and aid
function (Figs.7.6 and 7.7).
b
Fig. 7.6 Web spaces deepening using Ostrowsky aps: (a) preoperative planning of the aps dorsal view and (b) pal-
mar view; (c) postoperative result
db
e
Fig. 7.7 First web release technique: (a) preoperative
photograph of 4-ap z-plasty and (b) postoperative
appearance. (c) Preoperative photograph of modied
Buck Gramcko ap and (d) postoperative result. (e)
f
Preoperative planning of Buck Gramcko ap and (f)
intraoperative appearance. (g) Preoperative photograph of
5-ap z-plasty and (h) postoperative result
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E. Rosanda et al.
7.6.2.4 Thumb inthePlane oftheHand
In symbrachydactyly, thumb is usually hypoplastic and in the plane of the hand.
To improve the position and function of the
adducted thumb, it is necessary to release soft tissue in the rst web. When the thumb is also retropulsed, osteotomy may reposition the thumb in a
more appropriate position for pinch. Langer etal.
[43] reported the results of the rst web space
deepening combined with an abduction- rotational
osteotomy of the thumb metacarpal in 5 of 14
children. The osteotomy repositioned the metacarpal in an average of 73° of palmar abduction
and 60° to 90° of pronation to facilitate pulp-topulp pinch. In this series, all hands were able to
perform key pinch and lateral pinch and showed
subjective improvement in hand function and
appearance. Iba etal. [44] also reported a small
series of patients in whom improvement in pinch
and thumb function was noted after web- plasty
and rotation osteotomy of the rst metacarpal.
When the thumb is ipoplastic, it is possible to
combine rst web deepening with Huber muscle
transfer or other procedures to gain stability and
force as thumb metacarpal lengthening, thumb
interphalangeal joint arthrodesis, long nger
metacarpal lengthening.
7.6.2.5 Digit Instability
Floppy or unstable digits occur in symbrachydactyly. Chondrodesis, or fusion of the two cartilaginous surfaces, may stabilize these digits.
Arthrodesis can be performed in unstable, oppy
skeletally ngers without disturbing physeal
growth once the epiphysis has ossied.
7.6.2.6 Brachydactyly andAbsence
ofFingers
Non-Vascularized Free Toe Phalanx
Transfers
The objective of this operation is to augment the
length and stability of the ngers to improve prehension and appearance. Non-vascularized toe
phalangeal bone grafts provide additional length
for short hypoplastic digits in which the skin
sleeve is longer than the skeletal elements. Such
digits usually have ossication only in the distal
phalanx. This operation may be useful in type IIA
symbrachydactyly, when the base of the proximal
phalanx is present along with a generous soft tissue envelope.
The procedure was rst described in 1919 by
Noesske and recently used by Goldberg and
Watson [45]. The procedure must be performed
in early childhood. Goldberg and Watson demonstrated that for patients between 6 and 18months
at the time of surgery, 91% of phalanges had
radiographically radiolucent physes and these
phalanges showed growth between 83% and
100% of the contralateral undisturbed phalanx. In
children 18months to 5years old, only 67% of
transferred bones had open physes, whereas children more than 5 years of age had only 50%
radiographically open physes; however, the percentage of growth was the same [45].
Buck-Gramcko reported similar results with
better outcomes in children younger than 12
months [46].
The procedure involves the entire proximal
phalanx of the fourth or third toe being extraperiosteally harvested with its proximal collateral
ligaments and plantar plate, and then positioned
articulating against the metacarpal head. The
plantar plate and collateral ligaments are secured
to the host metacarpal. Primitive exor and extensor tendons in the hypoplastic digit are sutured to
the transferred phalanx [31]. Then all is secured
with a Kirschner wire from proximal to distal.
To reduce shortening on the nger at the donor
site, authors prefer to suture exors and extensor
tendons together at the level of bone draw. Other
option is the interposition of bone graft in the
phalangeal void within the toe.
The use of non-vascularized free toe phalanx
in symbrachydactyly is debated; the literature
reveals variable results, with longer-term followup showing more disappointing outcomes. The
most frequent complications or issues are reabsorption of the transposed graft (more often
observed if the graft does not include the distal
articular surface), donor site morbidity, poor
functional results, and instability of toe phalanx
[47] (Fig.7.8).
Garagnani et al. studied 40 children with a
mean follow-up of 10years, they noted consid-
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a cf
b
g
de
h
Fig. 7.8 Non-vascularized free-toe phalanx transfers
technique: (a) A patient with a monodactylous hand with
hypoplastic thumb; (b) preoperative planning of phalanx
transfer on the ulnar ray (c) preoperative radiographs (d)
postoperative results (e) thumb to ulnar digit pinch (f)
preoperative planning of donor site (g) intraoperative
photograph of phalanx drawing (h) long term follow-up of
donor site appearance
erable long-term donor site morbidity after toe
phalangeal harvest with many donors toes
oppy, unstable, and short with deformities in
adjacent toes [48]. Patients and families reported
varying degrees of dissatisfaction with the
appearance and durability of the foot as well as
cosmetic and physical problems with regard to
the toes [48].
Distraction Lengthening
Bone distraction is potentially useful for the
treatment of short ngers in symbrachydactyly.
However, the high rate of complications makes
the indications debated [49]. This treatment
rarely normalizes appearance and the literature
shows mixed results with little information to
indicate whether this procedure improves function and appearance.
Foucher [50] reviewed results of distraction
lengthening in 41 patients, 22 cases with symbrachydactyly. He reported an average gain of
2.3cm over 4months. Complications observed
were infection, nonunion, or fracture in 32%.
Miyawaki [51] reported successful cases of
metacarpal lengthening in patients with types
IIA, IIB, and IIIA, noting improved pinch
strength with no major complications; Heo
[52] reported a series of 24 metacarpal and 27
phalangeal lengthening procedures with a 31%
complication rate, including nonunion, fracture, premature consolidation, angulation, and
hardware failure. Others authors have reported
angulation of the lengthened bones, with
unsatisfactory appearance [ 53].
Seitz [54] reported a large series reecting his
long-term experience with distraction lengthening in the arm, forearm, and hand for children
with a wide range of conditions. He demonstrated
that in most cases the procedure increase length;
the family and child are satised despite of complex and arduous procedure and high rate of complication (50% minor, 9% major).
Given the high rates of complications reported
for distraction lengthening and the paucity of evi-
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E. Rosanda et al.
dence to support signicant functional gains,
authors rarely perform this procedure in
symbrachydactyly.
Microsurgical Toe-to-Hand Transfers
Toe-to-hand transfer is well-accepted for the
treatment of traumatic amputations in adults and
children. The indication for congenital hand malformations remains more debated.
O’Brien and colleagues [55] described the
rst toe-to-hand transfer for a congenital hand
anomaly in 1978, and several series have subsequently been reported [56, 57].
Toe-to-hand transfer could be more difcult in
symbrachydactyly despite of other anomalies as
constriction ring syndrome or traumatic amputations: the host nerves, blood vessels, and tendons
may be hypoplastic, anomalous, or absent in children with symbrachydactyly.
In 1988, Lister [58] described 12 toe-to-hand
transfers in children with various congenital hand
differences, including three cases of symbrachydactyly, and noted unique neuro- vascular anatomic variations in each patient.
Others have reinforced that there is a wide
variation in the neurovascular structures in symbrachydactyly [58–60].
The optimal age for toe transfers remains
unknown, but most experienced surgeons believe
toe transfers between 2 and 3years of age have
the best cortical integration [60], although transfers have been successfully reported in older children [61].
The indications for toe-to-hand transfers are
still being established for unilateral symbrachydactyly. Jones and Kaplan [60] proposed a morphologic framework of indications for
vascularized toe transfer in congenitals. There
are three indications for considering microsurgical reconstruction of an absent thumb:
1. isolated absence of the thumb, distal to the
metacarpal base with preservation of the carpometacarpal joint and thenar muscles and
with four normal or relatively normal ngers
2. absence of the thumb as well as the index,
middle, and ring ngers, but with one or two
ngers remaining on the ulnar side of the
hand
3. unilateral and extremely rarely bilateral
absence of all ve digits
There are two indications for considering toe
transfers to reconstruct absent ngers:
1. Absence of all four ngers proximal to the
base of the middle phalanges, but with a normal thumb (correspond to types IIIA and IVA
symbrachydactyly)
2. Complete absence of all ve digits
Providing pinch to the adactylous hand by
microsurgical toe transfer is usually accomplished in two stages, rst with a digit in the
thumb position and then with a digit positioned
for pinch using the second toe transfer most commonly [62]. Other authors have suggested that
the simultaneous transfer of bilateral second toes
has the advantage of not having to dissect the previously anastomosed vessels in a second procedure. Results show that toe to hand transfer is a
safe procedure: reported survival rates are greater
than 96% [63–66].
The range of motion of the transferred toes
can be unpredictable and Is the most common
indication for secondary revision. Passive range
of motion exceeds the active range of motion.
Despite this nding, tenolysis is rarely useful
[65, 67]. The transferred toes usually have minimal active distal interphalangeal motion and an
extension decit at the proximal interphalangeal
joint. A xed exion deformity of the toe transfer
is a frequent outcome.
Vilkki [68] reported that 14 of 17 patients had
the ability to pinch, whereas Van Holder et al.
[69] documented a mean extension decit of 20°
in 28 transfers at the distal joint and active total
exion of proximal and distal joints of 80°.
Foucher etal. [64] reported on 65 toe transfers
with 25° of extensor lag and approximately 38°
of active motion.
Growth and sensation are usually satisfactory. Kay etal. [67, 70] documented that transferred toes can reach up to 100% length of the
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a e
bd
Fig. 7.9 Microsurgical toe-to-hand transfers: (a) A
patient with a monodactylous hand with hypoplastic
thumb; previous operation a non-vascularized free toe
phalanx transfers to ulnar digit; (b) preoperative
radiographs; (c) postoperative appearance after double toe
c
f
contralateral toe with normal growth, whereas
other authors reported the length range from
60% to 100% [65].
Foucher et al [64] reported mean two-point
discrimination of 5 mm. Kay and Wiberg [67]
found that all of the children recovered protective
sensibility and the majority recovered good levels of two-point discrimination and light touch
perception.
With regards to the psychological affects, Kay
etal. demonstrated a high level of satisfaction for
appearance, function, donor site, reaction of others, and psychological well-being in parents and
children [67] (Fig.7.9).
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