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BRACHYSYNDACTYLY OF HAND : A Case Report with Review of Literature

Sanjay Jain
Orthopaedic Surgeon, General Hospital, Godhra 389 001 India.

Author adds on extensive variability of expression of congenital anomaly of brachysyndactyly of the hand. Brachysyndactyly was pre-axial and central with complete syndactyly of the thumb. Brachysyndactyly was biphalangeal in first and second rays, monophalangeal in fourth ray, aphalangeal in third ray and brachymesophalangia in fifth ray. Radial three carpals; scaphoid, trapezium, trapezoid were represented by peanut granules. Probably this is such first reported case from India.


Brachysyndactyly denotes associated shortening of the syndactyal digits. Brachysyndactyly is one of the controversial congenital anomalies of the hands and foot, which arises from disturbances of the bony premordium and results in phenotypic finger ray abnormalities.


The Ajaykumar R Nayak a 10 year old male, came to General Hospital Godhra (India) for getting a physical handicap certificate.

On examination, he was found to have five nails small right hand (Fig. 1).

Fig 1
Fig 1 : Unilateral bracysyndactyly with opposite normal hand

First and second radial rays had same sized nail. Camptodactyly was noted in little finger. There was a shallow groove on dorsal aspect of hand between fifth ray and first; second rays. Hand was small with reduction in size by about 40%. No active movement was seen in all radial four rays with flail ring finger. Syndactyly was complete (fingers are joint from the web to the fingertip) and simple (no common bony elements shared by the fingers) with side-to-side adjoining of all nails in all radial four rays. Central brachydactyly in index, middle, ring finger and pre-axial brachydactyly in thumb was noted. Middle finger was represented only by a rudimentary nail (Fig. 2).

Fig 2
Fig 2 : Pre- axial and more marked central bracysyndactyly. Note representation of middle finger only by rudimentary nail and flail index finger

X-rays revealed biphalangeal first and second rays. Middle finger was only represented by a rudimentary nail without phalanges. Ring finger was represented by an attenuated distal phalange only with absence of proximal and middle phalanges. Little finger showed square shaped brachymesophalangia. All metacarpals were hypoplastic. 2nd and 3rd metacarpal was atypical without its epiphysis. Radial three carpal (scaphoid, trapezium and trapezoid) was severe hypoplastic represented by peanut size structure (Fig. 3).

Fig 3
Fig 3 : Radiograph showing biphalangeal thumb and index finger; monophalangeal ring finger; aphalangeal middle finger and bracymesophalangeal in little finger. Note rudimentary scaphoid, trapezium and trepezoid
Other hand and both feet were normal. No other congenital anomaly was noted and also no particular congenital problems were documented in the family history. Patient and his relative refused for any surgical intervention and wanted only physical disability certificate for the social security purpose. Disability certificate issued as per gazette notification. [5]


Brachysyndactyly is a Greek word; brachys (short), syn (together) dactyly (digit). Brachysyn dactyly was the first case of Mendelian inheritance shown in man and was reported to be a simple dominant. [4] Pol named the anomaly, which is characterized by hypoplastic disturbances centred on the middle phalanges of the central rays with associated syndactyly. [12]

Muller (1937) first suggested that brachysyndactyly was based on disturbances of the bony premordium. Typical brachysyndactyly of the hands features unilateral hypoplasia, hypoplasia centred on the middle phalanges of the central rays and associated syndactyly. In author reported case hypoplasia was pre-axial and mainly central.

A number of classification, differential diagnosis and treatment have been described for brachysyndactyly of the hands by Ogino et al. [10]

Blauth and Gekeler2 extended the concept of brachysyndactyly of the hands and classified it into 4 types : short finger; a typical cleft hand; monodactyly and peromelia. "Brachysyndactyly" according to Swanson’s classification,14 results from undergrowth Group V. Swanson’s classification. However, brachysyndactyly according to Blauth does not necessarily correspond with "Brachysyndactyly" according to Swanson. Swanson has proposed that brachysyndactyly can be categorized as a failure of development, failure of separation of parts, undergrowth (Group I, II and V respectively).

Hirakawa6 has reported 125 cases of symbrachydactyly of the hands and described the sequence of events which results in this deformity.

Miura et al8 revealed x-ray features of 325 patients, with shortening of the metcarpals and/or phalanges analyzed and found that it was impossible to fit them into any simple classification.

Cheng et a [l3] classified 578 cases with a total number of 813 deformities, of the congenital upper limb anomalies with the International Federation of Societies for Surgery of the Hand (IFSSH) after a 10 years of study. There were only 6 cases of brachysyndactyly. They encountered difficulties when trying to differentiate between the atypical cleft hand, brachysyndactyly and transverse arrests. There was an obvious gap in knowledge of the pathogenesis of these anomalies and it is difficult at present to settle this problem rationally.

Maisels [7] described own suppression theory of cleft hand and foot in seven illustrative cases and found difficulty to differentiate atypical cleft hand from brachysyndactyly. Brachysyndactyly in which the bony phalanges are absent but the fingers represented as nubbins of soft tissue, often with nails. Walker and Clodius [16] refer to this condition as a pseudo lobster-claw. Barsky [1] divided this case into two groups : brachysyndactyly and partial ectrodactyly, with syndactyly. But Patterson [11] included them as a variety of the lobster-claw deformity.

Atypical cleft hand should be considered to be a moderate grade of brachysyndactyly. Atypical cleft hands demonstrate the common features of other types of brachysyndactyly : all cases are unilateral and various degrees of bone hypoplasia exist in the affected fingers as well as the adjacent fingers and in the proximal part of the limbs. [9]

Uchida et al [15] revealed several differences in the way symbrachydactyly occurs in the feet, compared to the hands. Symbrachydactyly of the feet represented a spectrum of deformities, which at its least severe is characterized by slight hypoplasia centred around the middle hypoplasia of the distal phalange and normal nails. More advanced case have moderate hypoplasia of the central rays, hypoplasia of the distal phalanges and some nail defects. In my case, moderate hypoplasia of the pre-axial rays and severe hypoplasia of central rays with nail defects were noted.

Sharma et al [13] described a father and his daughter with unique pattern of pre-axial brachysyndactyly and unusual facial appearance. There were short first metacarpals and hypoplastic phalanges of the thumb and index finger with incomplete syndactyly. In author reported case little finger was three phalangeal, thumb and index finger was two phalangeal, ring finger was single phalangeal and middle finger was without phalange.

Brachysyndactyly of the hand is relatively controversial. The aetiology, mechanism of development, pathogenesis and classification of this condition has not been delineated. Further characterization of it is necessary.


1. Barsky AJ. Cleft hand : Classification, incidence, treatment. Review of the literature and report of nineteen cases. J Bone Joint Surg 1964; 46A : 1707-20.

2. Blauth W, Gekeler J. Symbrachydactylien (Beitrag zur Morphologie, Klassifikation and Therapie). Hand Chirurgie 1973; 5 : 121-71.

3. Cheng JCY, Chow SK, Leung PC. Classification of 578 cases of congenital upper limb anomalies with the IFSSH system - 10 years experience. J Hand Surg 1987; 12A : 1055-60.

4. Farabee WC. Inheritance of digital malformation in man. Poper Peabody Mus Harvad Univ 1905; 3 : 65.

5. Government of India : Guidelines for evaluation of handicapped persons. Gazette notification vides no. 4-3/83 H.W.III : 6th August 1986.

6. Hirakawa M. Differentiation and diagnosis of congenital deformities of the hand with special reference to symbrachydactyly. Jikeikai Med J 1988; 103 : 91-109.

7. Maisels DO. Lobster-claw deformities of the hands and feet. Br J Plast Surg 1970; 23 : 269-82.

8. Miura T, Torii S, Nakamura R. Brachymetacarpia and brachyphalangia. J Hand Surg 1986; 11-A : 829-36.

9. Ogino T. Cleft hand. Hand Clinics 1990; 6 (4) : 661-71.

10. Ogino T, Minami A, Kato H. Clinical features and roentgenograms of symbrachydactyly. J Hand Surg 1989; 14B : 303-6. 11. Patterson TJS. Congenital deformities of the hand. Ann R Coll Surg 1959; 25 : 306-30.

12. Pol R. Brachydactylie, Klinodactylie, Hyperphalangie and ihre Grundlagen. Virchows. Arch Path Anat 1921; 229 : 338-530.

13. Sharma AK, Halder A, Phadke SR, Agarwal SS. Preaxial brachydactyly with abduction of thumbs and hallux varus : a distinct entity. Am J Med Genet 1994; 49 : 274-7.

14. Swanson AB, Swanson G, Tada K. A classification for congenital limb malformation. J Hand Surg 1983; 8 : 639-702.

15. Uchida T, Kojima T, Hirakawa M. Clinical study of symbrachydactyly of the foot. Br J Plast Surg 1983; 8 : 639-702.

16. Walker JC, Clodius L. The syndrome of cleft lip, cleft palate and lobster-claw deformities of hands and feet. Plast Reconstr Surg 1963; 32 : 627-36.


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