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varied grips possible e including key, pinch, large and small

object grasp.
If the thumb is competent, then the focus can turn to the other
In assessing and planning the reconstruction of a childs hand
the surgeon must always plan for the future. A young child can
function well with basic hand grasp patterns. However, as they
grow and become more independent they will need more refined,
precise hand movements.

Congenital hand anomalies

ainne Bourke

Congenital upper limb anomalies affect 0.1e0.2% of all newborns. They
are often isolated phenomena but can be associated with other congenital anomalies and may be the only external manifestation of a syndrome.
Knowledge of the treatment options is imperative to ensure appropriate
referral and counselling.
The aim of surgery for a congenital hand anomaly is to improve both
function and appearance. Apart from the face, the hand is the only other
part of the body on regular display.
Independent living is largely dependent on good bimanual hand function. For example a large proportion of activities of daily living such as
washing, dressing, and feeding consist of bimanual tasks. It is only
when we temporarily lose the function of one hand that the significance
of this becomes apparent. However, children with congenital hand anomalies adapt very well to limitations of hand function and can often find
trick manoeuvres to achieve essential tasks.
As there is a wide variation in the types and severities of hand anomalies these cases are largely managed in specialized clinics. It is in this
setting that the child and family will have access to long-term multidisciplinary care which includes input from geneticists, psychologists, therapists and childrens hand surgeons. For some children with more
complex anomalies, psychological support can be as valuable as surgery
to aid integration with and acceptance by their peers.

There are very few congenital anomalies that require urgent
surgical intervention although ring constriction syndrome with
severe distal oedema and neonatal Volkmanns ischaemic
contracture may be the exceptions.
However, referral to a specialized hand clinic where psychological, genetic and hand therapy input is available should be
arranged as soon as possible after diagnosis.
Certain conditions merit very early surgery not necessarily
because of the severity of the hand anomaly but more for the
benefit of performing surgery under local anaesthesia in
neonates. This is possible for some with extra digits and for the
release of minor acrosyndactyly (the distal joining of finger tips
in ring constriction syndrome).
Early surgery before the age of 1 year is recommended for the
separation of syndactylized (joined) border digits including
involvement of the first web space. This will prevent the problems related to differential growth of the digits and optimize
hand function.
In general if surgery is performed before school age the child
will tend to forget any negative psychological experience and
make a speedy postoperative recovery.
However, if co-operation and compliance are essential for
good postoperative outcome, as in tendon transfers, then it is
best to wait unit the child is 6/7 years old.
Apart from these examples, surgery for the correction of most
congenital anomalies takes place once the following criteria are
satisfied: (i) each subsequent figure should be increased, the risk
of general anaesthesia is minimal or as low as possible given any
other organ anomalies; (ii) a knowledge of the severity of other
anomalies is apparent and they have been treated where
possible; (iii) the size of the hand structures is such that surgery
is possible; (iv) sufficient time has elapsed so that the benefit of
splinting has had time to be effective. i.e. clasp thumb, trigger
thumb, camptodactyly.
In the majority of children this is between the ages of 1 and
2 years.

Keywords birth defect; congenital hand anomalies; duplication; finger

abnormalities; forearm abnormalities; hand deformity; newborn;
syndactyly; thumb abnormalities; toe transfer

Treatment principles
Functionality and cosmesis
The aim of surgery or therapy is to provide the child with the best
functional and cosmetic outcome possible. As some of these
children have other anomalies it is critical to look at the global
function of the child, rather than at specific elements of their
hand function.
The best functional outcome will provide the child with
normal grasp patterns for both single and bimanual tasks. In
simple anomalies this can be achieved with relative ease.
However in more complex and bilateral anomalies achieving an
acceptable level of function for activities of daily living can be
extremely challenging.
The limits of function are largely dependent on the number of
competent digits in the hand and their location. The presence of
a stable, sensate and mobile thumb is essential for competent
hand function. The thumb plays a key role in achieving the

The attitude of the childs parents affects their long-term
outcome. Their approach and method of coping with their childs
hand anomaly will significantly affect how the child adapts
psychologically. This in turn will influence how the child integrates into society.
As the severity of the congenital abnormality may vary, so too
can the reaction of the childs parents and does not necessarily
parallel the severity of the childs hand anomaly.1 Parents often have
difficulty making decisions about surgery on behalf of their new
baby. This can lead to parental disharmony and feelings of guilt.

Grainne Bourke MB Bch BAO FRCSI FRCS(PLAST) Consultant Plastic,

Reconstructive and Hand Surgeon, Leeds Teaching Hospitals Trust,
United Kingdom. Conflicts of interest: none.



2010 Published by Elsevier Ltd.


Early input from a psychologist with experience dealing with

parents and children with hand anomalies can be very valuable in
helping to allay fears and to encourage acceptance and support.2,3

Each category is then divided into subcategories for example

group I failure of formation is divided into the subcategories: (Ia)
longitudinal, (Ib) transverse or (Ic) failure of finger ray induction
including cleft hand.
Each subcategory is then further catalogued by the anatomical
level of the deformity i.e. shoulder, arm, elbow, wrist etc.
Following this the anomalies are then listed by common diagnosis for example, cleft hand, cutaneous syndactyly (Table 1).

Associated anomalies
Congenital hand anomalies can be part of a recognized genetic
syndrome or they may occur as a consequence of arrest or
disruption in gestational development. The limb bud develops
between the 4th and 8th week of gestation. At this time other
organs and systems are also developing so there can be disruption of both limb and other organs simultaneously. This explains
why radial ray deficiencies can be associated with other anomalies of cardiac, skeletal and gastrointestinal systems as occurs in
the VACTERL sequence (Vertebral, Anal, Cardiac, Tracheooesophageal, Renal and Limb).
Simultaneous proximal and distal disruptions of limb development may also occur as in Polands syndrome where there can
be associated anomalies of the hand with symbrachydactyly and
complete or partial absence of the pectoral muscles.
Knowledge of the common syndromes and typically associated
anomalies is very useful when assessing a child with a congenital
hand anomaly. It can help in planning timing of surgery and ensuring
appropriate specialist referral if other anomalies are diagnosed.
In some syndromes the limb anomaly may be the only
external manifestation of the syndrome. This is the case in
Thrombocytopenia Absent Radius syndrome and Fanconi s
Anaemia. The latter is a potentially fatal condition where the
radial ray deficiency or duplication may be the only external
feature of the syndrome. Children with Fanconis Anaemia
usually develop bone marrow failure within the first decade of
life and are at high risk of solid organ malignancy. Early diagnosis of Fanconis anaemia at the time of presentation of the limb
anomaly is essential to ensure appropriate referral to haematology and genetic clinics for assessment and counselling.

Failure of formation
Radial longitudinal deficiency: deficiencies on the radial border
of the hand and arm are not common. They are significant not
only because of the impairment of hand function but also
because there is a high risk of associated anomalies. The risk of
associated thumb hypoplasia is proportional to the severity of the
radial deformity.7 Radial border anomalies have a high incidence

Abbreviated IFFSH Swansons classification of

congenital hand anomalies
Main category
I. Failure of formation

a. Transverse
b. Longitudinal

c. Central
II. Failure of

a. Soft tissue

b. Skeletal

In 1968 Swanson first classified congenital anomalies by their
morphology assuming these were related to defects in embryogenesis.4 This system has remained as the most commonly used
classification system to date. It has been amended and updated
with the progress of time and knowledge by Swanson, the International Federation of Societies for Surgery of the Hand (IFSSH)
and the Japanese Society for Surgery of the Hand (JSSH).5,6
However there are still controversies about the classification
of certain anomalies such as symbrachydactyly which was originally classified in group V as undergrowth while atypical cleft
hand was classified in group I failure of formation. As the
spectrum of congenital anomalies is so great there is, as one
would expect, a group of unclassifiable anomalies which was
added at the time of the JSSH modification to include all those
anomalies which do not fit into another category.
As further knowledge about the embryological aetiology of
various congenital hand anomalies unfolds a new classification
system based on embrynogenesis may supersede this current
The Swanson classification system divides the anomalies
into the following categories: Failure of formation, Failure of
differentiation, Duplication, Overgrowth, Undergrowth, Constriction band syndrome and Generalized Skeletal Abnormalities.


c. Tumorous

Longitudinal radial
Longitudinal ulnar
Cleft hand
Cutaneous syndactyly
Congenital trigger digit
Radioulnar synostosis
Synostosis of the
Synostosis of the
Fibrous dysplasia
Epiphyseal abnormalities

III. Duplication

Thumb duplication
Ulnar polydactyly

IV. Overgrowth


V. Undergrowth


VI. Constriction Band Syndrome

Constriction band
with oedema
Constriction band
without oedema

VII. Generalized abnormalities

and syndromes

Marfans syndrome

Table 1


2010 Published by Elsevier Ltd.


of other associated congenital anomalies.8Up to 70% of children

with radial longitudinal deficiency will have other medical or
musculoskeletal anomalies while one third of those with thumb
hypoplasia will have associated anomalies.8
These include cardiac (HolteOram syndrome), haematological (Thrombocytopenia Absent Radii, Fanconis Anaemia),
osseous, renal and other anomalies. As the radial deformity may
be the only external feature of some of these syndromes it is
crucial that these children are all seen by a paediatrician and
A radiological classification of radial longitudinal deficiency
was first described by Bayne and Klug in 1987.9 Type 1 has
a small radius with both proximal and distal epiphyses present,
type 2 has a hypoplastic radius, in type 3 the distal radius is
absent and in type 4 the complete radius is absent. Later a type
0 was added where the radial carpal bones are hypoplastic and
the thumb is absent but the radius is of normal length.
Although the classification is based on the appearance of the
bone, the tendons, neurovascular structures joint capsule and
ligaments are also involved. In general the radial wrist extensors
and flexors are invariably involved. The radial nerve and artery
are often absent especially in the severe forms (Figure 1).
In general it is better both cosmetically and functionally to
correct the deviated wrist with a combination of distraction techniques followed by centralization or radicalization of the carpus
over the distal ulna. This must be combined with soft tissue
procedures to allow skin cover and tendon rebalancing. Once the
wrist has been corrected then associated thumb hypoplasia can then
be addressed with either augmentation procedures or pollicization.

However there are occasions when it is actually preferable not

to correct the deformity. These include those patients with absent
or limited elbow flexion. In these patients straightening the wrist
may leave the hand further from the mouth or perineum and so
disrupt function. In older patients who have already developed
patterns of use on the ulnar border of the hand changing the hand
pattern may decrease function. In those with severe soft tissue
contracture the neurovascular structures will limit complete
correction. In those patients with minor anomalies where there is
no limitation of function surgery does not add any advantage.9
Thumb hypoplasia: disorders of the thumb limit function more
than those of the other digits. The thumb plays a crucial role in
hand function and enables all forms of grip apart from palmer
grasp. The classification system routinely used for thumb hypoplasia is that described by Blauth in 196710 (Table 2).
Thumb hypoplasia can be an isolated unilateral deformity,
bilateral and may be associated with other anomalies of the
musculoskeletal system or of other organs8 (Figure 2).
It is thus important to ensure that other pathologies have been
sought and the child has been seen by a paediatrician. In some
children with Fanconis Anaemia or other rare disorders, the
thumb anomaly may be the only external feature of the condition
and so these children should be referred to a geneticist for
screening at an early age.
The aim of treatment of thumb hypoplasia is to improve
function. As the thumb functions well in type 1 hypoplasia
surgery is not indicated.
For type 2 deformities surgery must address the tight first web
space, the instability of the metacarpophalangeal joint with collateral ligament reconstruction and the lack of thumb opposition. The
web space tightening is usually corrected using a local flap. This can
be a transposition flap from the radial border of the index finger,
a rotational advancement flap from the back of the hand or multiple
Z plasties. Multiple opponensplasty procedures have been
described but probably the most popular for congenital thumb
hypoplasia is the Huber transfer, using the abductor digiti minimi.11
Type 3 thumb hypoplasia is subdivided into two groups
depending on the competency of the basal joint. Where
a competent basal joint is present the treatment is similar to type

Blauths classification of hypoplastic thumb

Figure 1 Longitudinal radial deficiency with thumb aplasia. The wrist is

flexed radially due to the lack of structures on the radial side of the
forearm and hand.


Type 1

Clinical findings
Small thumb but functions normally

Type 2

Small thumb
Adduction contracture of the first web space
Absence of thenar muscle
Ulnar collateral ligament laxity at the
metacarpophalangeal joint

Type 3

Small thumb
Lack of intrinsics muscles
Lack of extrinsics muscles
Abnormal CMC joint.

Type 4

Pouce flottant

Type 5

Absent thumb

Table 2


2010 Published by Elsevier Ltd.


Central longitudinal deficiency (typical cleft hand): cleft hand

or central longitudinal deficiency is a rare autosomal dominant
condition. It typically involves all four limbs in a V-shaped
central deformity (Figures 3 and 4). It may be associated with
other anomalies of the musculoskeletal system or other organs.
When associated with abnormalities such as cleft palate and
ectodermal dysplasia it is called as Ectodermal, Ectrodactyly Cleft
syndrome (EEC).
Barsky differentiated between typical and atypical cleft hand
or symbrachydactyly. The latter being a U-shaped deformity
confined to one limb.16
The hand anomaly may vary from a simple soft tissue cleft to
suppression of all rays except the little finger. In general it
involves a combination of suppression of central rays, syndactyly
and central polydactyly with the presence of transverse bones in
the cleft increasing the deformity with growth.
The features which cause functional limitation are involvement of the first web space which can be narrowed or even
syndactylized to the index ray and a number of remaining
Despite the very unusual appearance of the hands, as long as
two or more digits are preserved on each upper limb, children
with typical cleft hands function well.
Surgery is aimed at improving the first web space, closing the
central cleft and reconstructing absent digits where possible, to
improve both function and cosmesis.
Several methods have been described for closure of the cleft.
The most common of these is the Snow Littler procedure and that
described by Miura and Komada.17 Both of these methods
involve a combination of local soft tissue flaps, transposition of
the index metacarpal and reconstruction of the transverse intermetacarpal ligament in order to provide an adequate first web
space and close the central cleft deformity.18
Associated foot abnormalities may also need to be addressed
to allow the child to wear normal footwear.

Figure 2 A hypoplastic thumb with a tight first web space.

2 deformities. Where the basal joint is not competent then pollicization of the index finger is the current treatment of choice.
This is also the choice for reconstruction of type 4 and 5 thumb
hypoplasia where the thumb is absent or floating.
Ulnar longitudinal deficiency: this is rare. Bayne classified the
radiological appearance of the ulna, radius and associated radiohumeral synostosis into four sub-types.12These range from
a short ulna to severe absence with bowing of the radius and
dislocation of the radial head. Radiohumeral synostosis is associated with the more severe deficiencies. This classification
system was modified by Goldfarb and colleagues to include more
proximal anomalies.13 Associated hand anomalies are common
and have been classified by Ogino.14
When children with ulnar longitudinal deficiency first present
the affected short arm is often internally rotated and thus positioned behind the childs back. This always improves over time
and eventually the arm lies in a normal plane to enable limb
function. Some children have radiohumeral synostosis while
others have radial head dislocation and a bowed radius. Thus
each child is different and should be examined for functional
limitations rather than cosmetic appearance.
Treatment involves the early application of splints to correct
the ulnar deviation of the wrist combined with stretching exercises. It is not usually necessary to excise the fibrous anlage of
the distal ulna.
In the hand, any digit may be involved and the ulnar digits
may be absent. The thumb may lie in the same plane as the
fingers and there may be syndactyly between any of the digits
which must be corrected to improve function.
Overall, children with ulnar deficiency function well. Apart
from surgery to correct the associated hand anomalies they often
escape surgical intervention.15


Figure 3 A typical cleft hand illustrating a central cleft combined with

a narrow first web space.


2010 Published by Elsevier Ltd.


Figure 5 Symbrachydactyly-short finger type. The first web space is also

tight and requires release. This child also had deficiency of the shoulder
girdle muscles and thus had a diagnosis of Polands syndrome.

Failure of differentiation
Syndactyly: meaning joined digits, is one of the commonest
congenital hand anomalies (Figure 7). It occurs in 1 in every
2000e2400 births and is often bilateral.23,24 It is more common in
males than females and is variable in presentation. Five different
types of autosomal dominant syndactyly have been described
which may or may not involve the foot.25
Syndactyly is a consequence of an absence of apoptosis in
mesodermal tissue between digits during embryonic development. This has been associated with a decrease in BMP 4.23
It is classified by the length of the skin shared between the two
digits into complete where the join includes the finger tips and
incomplete where the join is partial only. It is also classified by
the type of tissue involved. If the join only involves skin it is
called simple syndactyly while if there is bony involvement it is
called as complex (Figure 8).
Syndactyly is associated with several syndromes. These
include the multiple suture craniosynostosis syndromes such as
Aperts and Saethre Chotzen as well as Greigs Cephalopolysyndactyly. In these syndromic cases the syndactyly tends
to be complex and often complicated.
Syndactylized border digits such as the thumb and the index
finger are usually separated between 6 and 12 months of age.

Figure 4 A typical cleft foot in the same child. The toes are splayed which
can lead to problems with footwear.

Symbrachydactyly: in the original Swanson classification

system symbrachydactyly was classified in Undergrowth (V).
However following the Japanese modification of the classification system it is now placed in Failure of formation (I).5
Symbrachydactyly has previously been described as atypical
cleft hand. It is sporadic in nature and presents as a U-shaped
deformity. It classically involves one limb. It is a combination of
short, joined digits which may be of variable severity. In some
cases only rudimentary digits called as nubbins remain. It has
been classified into short finger, oligodactylic, monodactylic and
peromelic subgroups depending on the severity of the deformity
and the number of digits remaining (Figures 5 and 6).19
The treatment of symbrachydactyly is based on improving both
hand function and cosmesis. In the short finger type where a normal
thumb is present simply separating the joined digits may suffice.
However, in the other more severely affected types digit
reconstruction is indicated to enable competent hand function.
This can be achieved with the use of microvascular toe transfers.
These transferred digits have excellent growth potential and are
both mobile and sensate.20e22
Symbrachydactyly is associated with Polands syndrome. This
syndrome presents with deficiency of skeletal and soft tissue
components around the shoulder girdle and can include symbrachydactyly. Classically there is an absence of all or part of the
pectoralis major muscles but this may be associated with deficiencies of the skeletal components of the chest wall. However other
shoulder girdle muscles can be involved in isolation or
The absent pectoralis major can be reconstructed at an early
age using an ipsilateral latissimus dorsi transfer. Staged breast
reconstruction is then undertaken during teenage years.


Figure 6 Symbrachydactyly-oligodactylic type with a single ulnar digit and

radial nubbins.


2010 Published by Elsevier Ltd.


web space between the digits using a flap, reconstruction of the nail
folds and separation of the digits while avoiding linear scars that
may cause contractures26,27 (Figures 8 and 9).
Camptodactyly: camptodactyly or arched finger was first
described in 1846 by Tamplin.28 It is a flexion contracture of the
proximal interphalangeal joint which can be progressive
(Figure 10). It is not associated with trauma and unless there is
additional joint laxity it is not associated with any abnormality of
the distal interphalangeal joint. Benson and colleagues classified it
into three main groups: infantile, adolescent and syndromic.29
Infantile and adolescent types are usually isolated to a single
digit. This is usually the little finger. Syndromic types have
multiple digit involvement and tend to have more severe
The aetiology is due to an imbalance between the flexor and
extensor systems of the finger. There is often but not always an
anomaly of the lumbrical or flexor digitorum superficialis insertion. There is a secondary soft tissue shortage particularly of skin
on the volar surface of the proximal phalanx which also needs to
be addressed. It can be associated with bony and joint abnormalities such as loss of the normal curve of the head of the
proximal phalanx.
The treatment for infantile and adolescent types is quite
similar. Many of patients in these groups respond well to
a combination of dynamic and static splints. The aim of this
treatment is to try to address the imbalance between the flexor
and extensor tendons. In those who are symptomatic and do not
improve with splints, surgery is an option.

Figure 7 Simple, complete syndactyly.

This is to promote the normal development of hand grasp from

palmar to pincer grip and prevent deformity due to unequal digit
length and growth. The separation of central rays is less essential
to hand function but does improve the span of hand grasp and
cosmesis. This is usually performed between the age of 1 and 2
Various techniques for syndactyly release have been described.
The essential components are creation of an adequate and aesthetic

Figure 8 Complex syndactyly with sparing of the first web space. The
differential growth of the central rays is visible when compared to the
little finger.


Figure 9 The same patient postoperatively. All four fingers have been
separated using a combination of local flaps and full thickness skin grafts.


2010 Published by Elsevier Ltd.


Shortage of skin is corrected with either a local transposition

flap from the border of the digit or a full thickness skin graft. Any
abnormal or tight fascial bands can be divided. The abnormal
anatomical insertions of the lumbrical or flexor digitorum
superficialis tendons can be corrected. Several techniques have
been described involving transfer of the flexor digitorum
superficialis to the extensor, transfer of extensor indicis to the
lumbrical insertion or lengthening or dividing the FDS
In cases where there is an abnormality of the head of the
proximal phalanx correction by soft tissue procedures is unlikely
to yield a satisfactory outcome. In these cases a closing wedge
osteotomy of the proximal phalanx or arthrodesis may be

and closing wedge. The latter should be avoided as it will further

shorten the middle phalanx.32
Clinodactyly is often associated with other congenital anomalies and syndromes including Down syndrome, Aperts syndrome,
Treacher Collins syndrome and Kleinfelters syndrome. It can
affect any digit but the little finger and thumb are the most
commonly involved.
In Aperts syndrome the thumb and/or index finger are/is
usually affected and require surgical correction to improve
function. An opening wedge osteotomy combined with a local
skin flap to correct the soft tissue deficiency works well.35
Clinodactyly also occurs in some triphalangeal thumbs. This
should be suspected in a thumb which is long and has an ulnar
curvature. The extra triangular phalanx may not be obvious on
early X-rays but will be seen once the bone ossifies. If these are
diagnosed early and the extra phalanx is small it can be removed
and the thumb realigned to give and excellent result.36

Clinodactyly: means bent finger. It describes a curvature of the

digit in the radioulnar plane (Figure 11).
Familial clinodactyly is an autosomal dominant condition. It is
usually bilateral and classically affects the little finger. The
middle phalanx has an abnormal c shaped epiphysis and is
trapezoidal due to the deficiency in longitudinal growth. This
results in a radial curvature of the digit.33
Familial clinodactyly cannot be treated with splints and
surgery is usually for cosmetic rather then functional reasons.
Vickers described resection of the central portion of the c
shaped epiphysis and placement of a fat graft into the defect.
These cases were not splinted and showed gradual correction of
the deformity over time.34 Other methods of correction that have
been described are osteotomies- opening wedge, reverse wedge

Ulnar polydactyly: polydactyly is the most common congenital
anomaly of the hand. It can be preaxial (radial), postaxial (ulnar)
or central.
Ulnar polydactyly is more common in those of African origin.
It is more common in males than in females and is an autosomally dominant inherited condition. Ulnar polydactyly is usually
bilateral but may affect all four limbs. The extra digit may either
be a pedunculated digit (type 1b) or else a fully formed finger
that articulates with the 5th metacarpal (type 1a).37
Ulnar polydactyly does not usually cause any functional
problems but the extra digit is frequently removed for cosmetic
reasons. If the digit is pedunculated there is a risk of the pedicle
twisting and infarcting the digit causing pain.
Simple ulnar polydactyly with a pedunculated digit can be
excised under local anaesthetic in the neonatal period
(Figure 12). If the metacarpophalangeal joint is involved, the
ulnar collateral ligament must be reconstructed, the metacarpal

Figure 10 Camptodactyly of the little finger with compensatory hyperextension of the MCP joint.


Figure 11 Clinodactyly of the little finger.


2010 Published by Elsevier Ltd.


head narrowed and the tendons assessed and realigned at the

time of surgery.

Wassells classification of thumb duplication

Radial polydactyly: thumb duplication was categorized based

on the radiological appearance into six groups by Wassel in
196938(Table 3). In 1978 Wood extended the classification to
include triphalangeal thumb duplication39 (Table 3). It occurs
more frequently in Caucasians and is usually an isolated abnormality (Figures 13e15).
However, it can be associated with other congenital abnormalities and syndromes including Fanconis Anaemia, VACTERL
syndrome and Duane radial ray syndrome.
The principles of treatment for thumb polydactyly are to
fashion a thumb of adequate length, stability and motion so that it
works well and is similar in appearance to the contralateral
normal thumb. Where the duplicates are of unequal size and one
is superior in size and function then the smaller is removed
making sure to realign the shared joint and reconstruct the
collateral ligament. This may also necessitate osteotomies of the
metacarpal or phalanx. If both duplicates are equal then a sharing
procedure such as described by Bilhauth Cloquet may be
required.40,41 It is best to avoid a nail bed scar where possible as
this often causes a ridge or a split nail and can be difficult to treat.

Table 3

It can be associated with neurofibromatosis, Olliers disease

and Maffuccis syndrome. The later two are syndromes involving
multiple encondromatosis.
Lipofibromatosis is usually unilateral and more common in
males than females. The overgrowth follows the distribution of
a nerve i.e. median nerve and can involve adjacent digits and
extend into the palm of the hand. The affected digits are often
divergent. There are two growth patterns either static or
progressive. Static macrodactyly is present at birth and the digit
grows proportionally with the child. Progressive macrodactyly is
also present at birth but the digit grows disproportionally when
compared with the rest of the hand. This type of macrodactyly
will require more aggressive and earlier treatment.43
The psychological implications of macrodactyly are significant. Both parents and child are usually more concerned about
the abnormal size and appearance of the macrodactylous digit
than any limitation of function.
Early surgical intervention is aimed at debulking soft tissues
but preserving vital structures such as nerves and arteries. It is
important to inform both parent and child that multiple staged
procedures will be necessary to achieve an acceptable outcome.
Access incision should be placed in a midlateral plane where
possible to avoid obvious scars, prevent contractures and
promote motion.
Limitation of bone growth can be achieved with epiphyseal
arrest. This is performed when the digit is the same radiological
length as that of the same sex parent. Differential arrest of the
epiphysis can be performed to correct the abnormal curvature that
occurs when adjacent involved digits are divergent. Osteotomies

Macrodactyly: is probably one of the most difficult congenital
hand anomalies to treat. It was classified by Flatt into four groups
based on its aetiology. These are gigantism with lipofibromatosis,
gigantism with neurofibromatosis, gigantism with digital hyperostosis and gigantism with hemihypertrophy.42

Figure 13 In correcting thumb duplication, nail bed scars should be kept

to a minimum as there is a high risk of split or ridged nail deformities.

Figure 12 Ulnar polydactyly type 1b.


Radiological findings
Bifid distal phalanx
Duplication of distal phalanx
Bifid proximal phalanx
Duplication of proximal phalanx
Bifid metacarpal
Duplication of metacarpal
Duplication triphalangeal thumb


2010 Published by Elsevier Ltd.


Figure 15 Proximal thumb duplication. Here as the ulnar digit was smaller
and less functional it was excised.

Figure 14 Where there are two unequal components the smaller is sacrificed. It is essential to reconstruct the collateral ligament during the

The treatment is surgical with excision of the constricting

band and z plasty closure, release of the acrosyndactyly and
where necessary digit reconstruction. It is important to realize
that anatomical structures proximal to the constricting band are
normal. Thus free microvascular toe transfer is an effective
means of digit reconstruction in cases of complete digit loss.
However, the involvement of multiple limbs often interferes with
available donor toes (Figure 16e18).
In general, despite the loss of distal digital parts children with
ring constriction syndrome have good hand function. Often
simply releasing conjoined digits and correcting deep constrictions will yield a very functional result.

can be performed to correct abnormalities of width, length and

If a single digit is involved it is worth considering ray amputation and in the case of the thumb, reconstruction with
a microvascular toe transfer.43
Ring constriction syndrome: also called amniotic band
syndrome, it has an incidence of 1 in 1,200e1 in 15,000.44 It
occurs equally in males and females and usually involves more
than one limb. It involves a combination of distal ring constriction, intrauterine digit amputation and acrosyndactyly. There is
distal syndactyly with proximal fenestrations.44There are two
theories describing its aetiology e intrinsic and extrinsic.
The intrinsic theory attributing the deformities to an abnormality in the development of the subcutaneous tissues was first
described by Streeter in 1930 and subsequently modified by
Patterson in 1961.26,45
The extrinsic theory describes a rupture of the amniotic
membrane with the limb or body part then lying between the
amniotic and chorionic membranes. This was described by
Torpin in 1965.46
It is associated with other anomalies such as club foot, cleft lip
and palate, craniofacial anomalies and limb length discrepancies.
The hand anomalies vary considerably, but if the constricting
band is tight it can result in abnormalities of nerve and vessels as
well as skin and subcutaneous fat. If there is severe oedema distal
to the ring constriction then urgent surgery is indicated to avoid
further compromise of lymphatic and venous flow in the limb.


Generalized skeletal abnormalities

Trigger thumb: is a common condition seen in young children.
Whether it is actually a congenital anomaly is often debated.
Several studies have illustrated its absence at birth.47,48
Notta first described the swelling of the flexor pollicis longus
at the level of the A1 pulley in 1850.49 This description has
remained and the swelling is now classically called Nottas node.
This palpable swelling combined with a thickened A1 pulley
causes the triggering. However once the pulley has been released
the tendon reverts to normal and the node disappears.
The child usually presents with a thumb flexed at the interphalangeal joint rather than with triggering as this is too painful.
Children presenting before the age of one can be treated conservatively. One third of those presenting before the age of 6 months
resolve spontaneously and 12% of those presenting between the
ages of 6e12 months also resolve without intervention.50 Children


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Figure 18 Foot involvement in ring constriction syndrome demonstrating

the band encircling the great and second toes.
Figure 16 Ring constriction syndrome illustrating the tight constricting
rings and distal oedema.

thumbs with aplasia of the extensor pollicis brevis and a tight web
space. These usually correct with the use of splints, Type 2 are
complex thumbs with associated abnormalities of the MCP joint,
collateral ligament instability, hypoplasia of the thenar muscles
and collateral ligament instability. Type 3 clasped thumbs are
associated with syndromes such as arthrogryposis and windblown
hand anomalies.51
The treatment for all types is with splints initially. These help
to release the web space contracture and hold the thumb in an
abducted and extended position. A significant number of type 1
thumbs will correct with splint therapy alone. In those cases with

who present after the age of 3 years are at risk of developing

a flexion contracture at the interphalangeal joint and thus should
be managed with an A1 pulley release.
The surgery is performed through a transverse incision at the
level of the metacarpophalangeal joint with preservation of the
adjacent digital bundles. The A1 pulley is released in full and
the tendon motion should be checked before the skin is sutured.
Once the pulley has been fully released the symptoms resolve
and seldom recur.
Clasp thumb: congenital clasped thumb involves flexion of the
thumb at the metacarpo-phalangeal (MCP) joint with an adduction contracture of the first web space (Figure 19). The thumb is
flexed across the palm. The interphalangeal joint may be
involved also if the extensor pollicis longus is absent or hypoplastic. It must be differentiated from congenital trigger thumb
where only the interphalangeal joint is involved.
It may be an isolated anomaly but more commonly is part of
a syndrome such as, windblown hand, Freeman Sheldon syndrome,
arthrogryposis or other neuromuscular syndromes.49
The deformity is present at birth but children present after 3/4
months. They are classified into three main groups: types 1/supple

Figure 17 The same patient (as shown in Figure 16 with ring constriction
syndrome) 6 weeks after digit reconstruction with synchronous bilateral
second toe transfers.


Figure 19 A clasped thumb with a tight first web space, flexion of the
metacarpophalangeal joint and flexion of the interphalangeal joint. The
thumb is positioned across the palm.


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a supple deformity that has not corrected with splints as well as

types 2 and 3, surgery aims to release the web space contracture
with the use of local flaps, reconstruct the extensor mechanism
and correct any deformity of the metacarpophalangeal joint.

Congenital hand anomalies are common and can be associated
with other anomalies.52 It is important to have an awareness of
treatment principles so that parents receive the appropriate
counselling and children are referred to specialist clinics if
The Swanson classification system is widely accepted and
helps with both communication and documentation of
The types of anomalies are very diverse and it is not possible
to produce a comprehensive and complete algorithm of treatment
options in this article. However, the principles of management,
including the important role played by skilled therapists and
psychologists are demonstrated.

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