Polydactyly: A case study

Pit Baran Chakraborty *, Bani Marjit **, Sikha Dutta ***, Alpana De ****
Bankura Sammilani Medical College*, IPGME & R, Kolkata**, C.M.C Kolkata***, M.M.College, Kolkata****

ABSTRACT: Polydactyly is the commonest congenital deformity of the foot and hand presenting as a range of defects from
minor soft tissue duplications to major bony abnormalities. For proper management a comprehensive knowledge is required
amongst medical fraternity. Here we intend to summarise the experience obtained from a family having bilateral polydactyly of
both hands and both feet. Photograph and radiograph of hands and feet of the two brothers were studied.

KEY WORDS: Polydactyly, Congenital deformity.

INTRODUCTION counseling cannot be done due to the lack of facilities

Polydactyly is characterized by more than five
fingers/digits in hand/foot. It can present alone or as
part of many syndrome due to genetic disorder. The
defects may be due to autosomal recessive or
autosomal dominant disease. The present work was
conducted to analyse the type, pattern of involvement,
associated anomalies, plan of treatment and outcome
of this malformation.
Five types of polydactyly were encountered (1),
type I cutaneous nubbin, type II-pedunculated digit,
type III- articulating digit with fifth metacarpal, type IV-
fully developed digit with sixth metacarpal and type V-
polysyndactyly. Type I and II ulnar polydactyly are
more prevalent. From Raphael's paintings it was
found that the father (St. Joseph) and son had
postaxial polydactyly (2) which is an autosomal
dominant trait. St. Joseph found shoes uncomfortable
because of his polydactyly. Pre and postaxial
polydactyly are also found in Acrocallosal Syndrome
(3), an autosomal recessive condition characterized
by agenesis of corpus callosum.
Molecular aspect of limb devevlopment (4) has
an identifiable molecular basis. Hand surgeons
should beware of the basic molecular pathways
controlling limb development because they are in a
unique position to be able to identify patients with such
deformities.
If Ultrasonographic examination can be done
during 14-16 weeks of gestation, fetuses with
polydactyly may be observed. USG is a valuable tool
for identification and early management since there is
no biochemical or histopathological markers. In utero
auto-amputation (5) of extra digits can be done.
Pregnancies, having polydactyly associated with
other anomalies, should be terminated. Whereas
isolated fetal postaxial polydactyly type II is
associated with a favourable outcome.
The present study was carried out with two
cases of the same family. Detailed history was taken
and recorded. Photography and radiology were the
main means of establishing the diagnosis. Genetic
Family history- The parent of these two
brothers (Case-I, Case-II) had early marriage. At the
age of 17 years the mother gave birth to a girl (IUD) by
breech presentation. Subsequently she gave birth to
five sons and one daughter. The eldest son is
suffering at present with cardiac problem. The second
(Case-I) and fifth (Case-II) sons having postaxial
polydactyly of both hands and feet.
Case-I
On physical examination of hands it was noted
(Fig-I) that both hands contain one extra digit on ulnar
side (Post axial polydactyly). On the right the extra
digit is very small and closely fitted with hand but on
the left hand the extra digit is well spaced with its
neighbouring finger.
On radiological examination it was found (Fig-
2) that on the right side the base of 5th metacarpal is
bifid and for that one extra carpal bone is formed for its
articulation. The 6th metacarpal base articulates with
that extra carpal bone on its medical side. The
proximal phalanx of 6th digit articulates on medical
side of bifurcated base of 5th metacarpal bone.
Left hand radiograph shows the 5th metacarpal
bifurcate and becomes 'Y' shaped at its distal end. No
extra carpal bone is found in the left hand. The 6th
proximal phalanx articulates with distal part of the
medial bifurcated end of 5th metacarpal bone.
Both the feet are well formed and the toes are
uniformly placed (Fig-3). On radiological examination
(Fig-4) it was noted that in both feet the great toes are
deviated more towards medially probably due to
broad bases of 1st metatarsal bones. The base of 5th
and 6th metatarsal bones of left side seems to be
united together but on the right side 5th and 6th
metatarsals are separate bones. There is extra tarsal
on the medial side of cuboid bone on both sides for
articulation with base of 6th metatarsal bone.
Case-II
On the right hand (Fig-5) it was found that the

J. Anat. Soc. India 56 (1) 35-38 2007 35

Polydactyly: A case study....Pit Baran Chakraborty, Bani Marjit, Sikha Dutta, Alpana De
Fig.1 Both hands contain one extra digit on ulnar side (Post
axial Type-II polydactyly), on the right hand the extra
digit is very and closely fitted with hand.
Fig.3 Both the feet are well formed and all six toes are
uniformly placed.
postaxial digit is well formed with normal spacing
(Type-Pvpolydactyly). But on the left hand it was
noted that the 6th finger arises from ulnar border of
hand slightly proximal to the base of 5th finger.
On radiological findings (Fig-6) it was noted that
one extra carpal bone was developed for articulation
of 6th digit on the right side. On the left side the 5th
metacarpal base is much wider. The proximal phalanx
of 6th finger articles with ulnar side of 5th metacarpal
bone (Type-III polydactyly). There is no 6th
metacarpal on the left side but the right 6th metacarpal
is well formed.
Both the feet are found (Fig-7) containing an
extra toe on lateral side with normal shape and
position (Type IV polydactyly).
J. Anat. Soc. India 56 (1) 35-38 2007
Fig.2 On the right side of 5th metacarpal is bifid and one extra
carpal bone is formed for its articulation. The 6th
metacarpal base articulates with that extra carpal bone
on its medical side. The proximal phalanx or 6th digit
articulates on medial side of bifurcated base of 5th
metacarpal bone. In left hand the 5the metacarpal
bifucrate and become 'Y' shaped at its distalend.
Fig.4 The base of 5th and 6th metatarsal bones united
together, extra tarsal bone.
On radiological view (Fig-8) it was found that
both great toes having broad bases and are slightly
deviated towards medial side. The bases of 5th and
6th metatarsals are fused up to middle of the
metatarsals. After that they look like separate bone
with only two phalanges in both 6th toes.
No other abnormalities were found in both the
cases.
So, although the photographs of hands and
feet of the two brothers seem apparently of the same
person, radiological findings are clearly different.
In addition, it can be mentioned here that
although polydactyly is not very rare, it is very
uncommon to be acquainted with polydactyly of both
hands and both feet of the two brothers of a family as it
36
Polydactyly: A case study....Pit Baran Chakraborty, Bani Marjit, Sikha Dutta, Alpana De
is in our case.
Discussion
The patients develop polydactyly along with
other abnormalities. In chondroectodermal dysplasia
Fig.5 Postaxial digits are well formed (Typed - IV polydactyly).
The 6th finger arises from ulnar border of hand slightly
proximal to the base of 5th finger.
Fig.6 One extra carpal bone is on right side. The proximal
phalanx of 6th finger articulates with ulnar side of 5th
metacarpal (Type - III polydactyly)
Fig.7 One extra toe is on lateral side in both feet (Type - IV
polydactyly)
J. Anat. Soc. India 56 (1) 35-38 2007
Fig.8 The bases of 5th and 6th metatarsals are fused up to
middle of the metatarsals.
(6) patients having bilateral polydactyly, hydroitic
ectodermic dysplasia affecting principally the nails,
teeth, the hair and congenital heart malformations. It
is necessary to identify this disease at its early stage
in order to render prompt treatment. The oral
manifestations are characteristic for this particular
disease so that a dental surgeon can identify this
condition and refer this case to a cardiologist and
orthopedicion for correction surgeries. In
consanguineous family bilateral post axial
polydactyly(7) of hands and foot is the characteristic
feature in Joubert syndrome,which is an autosomal
recessive condition. African Americans more than
other ethnic groups, commonly inherit a six finger as
a dominant trait. Asphyxiating thoracic dystrophy is
usually associated with polydactyly and in this case
short arm of chromosome 12 is defective. Familial
transmission of congenital muscular torticullis (8)
has been reported in the literature and postaxial
polydactyly has been frequently reported in familial
cases. A significant association with parental
consanguinity was observed for congenital
anomaly: hydrocephalus, postaxial hand and foot
polydactyly and bilateral cleft lip / palate (9).
Development of proper pattern requires the
involvement of inhibitory pathways in the anterior
limb that prevent secondary polarizing zone
formation, thus limiting the number of digits
produced.
Lmbr 1 gene is required for limb formation and
that reciprocal changes in levels of Lmbr 1 activity
can lead to either increases or decreases in the
number of digits in the vertebrate limbs. The loss of
digits in mice was observed with reduced Lmbr1
activity in contrast with the gain of digits observed in
Hx mice and human polydactyly patients (10).
Polydactyly is a characteristic feature of Pallister-
Hall syndrome (11) along with other abnormalities.
37
Polydactyly: A case study....Pit Baran Chakraborty, Bani Marjit, Sikha Dutta, Alpana De
The patients present postaxial polydactyly of hands,
dysplastic nails, imperforate anus, insertional
hexadactyly of the left hand and two 'Y' shaped
metacarpal with six fingers at the right hand. In our
case-1 we have found the 'Y' shaped 5th metacarpal
in left hand.
Conclusion
Surgical technique, the outcome and the
complications may be ascertained by studying
different cases. In general the surgical treatment for
pre-axial duplications gives excellent functional and
good aesthetic results. The functional outcome seems
to be related to the stability of the interphalangeal and
metacarpo-phalangeal joints. An autosomal
recessive disorder characterized by postaxial
polydactyly along with multicystic kidney should be
recognized by obstetricians and pediatricians to
councel parents regarding the 25% recurrence risk
(12). Polydactyly can be diagonised by second
trimester.
As such polydactyly is satisfactory functionally
and does not need surgery but in post-traumatic finger
pulp reconstruction, a free finger-pulp flap can be
elevated from the excised extra digit in a patient with
coincidental polydactyly that had not been previously
corrected. It can result in satisfactory reconstruction of
the defect with a well-padded, sensitive fingertip and
excellent cosmetic appearance with the simultaneous
correction of the polydactyly.
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