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Journal of the Anatomical Society of India

Polydactyly: A Case Study

Author(s): Pit Baran Chakraborty, Bani Marjit, Sikha Dutta, Alpana De

Vol. 56, No. 1 (2007-01 - 2007-06)

Pit Baran Chakraborty(1), Bani Marjit(2), Sikha Dutta(3), Alpana De(4)

Bankura Sammilani Medical College(1), IPGME and R, Kolkata(2), C.M.C Kolkata(3), M.M.College, Kolkata(4)


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.


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 counseling cannot be done due to the lack of facilities

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.


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 (Fig2) 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.


On the right hand (Fig-5) it was found that the 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).

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.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.3 Both the feet are well formed and all six toes are uniformly placed.

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 is in our case.


The patients develop polydactyly along with other abnormalities. In chondroectodermal dysplasia (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.

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.

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)

Fig.8 The bases of 5th and 6th metatarsals are fused up to middle of the metatarsals.


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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