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 Table of Contents  
ORIGINAL ARTICLE
Year : 2014  |  Volume : 7  |  Issue : 1  |  Page : 53-55

Split hand/foot malformation: Report of 13 cases in a family with variable presentation


Department of Orthopaedics, S. S. Medical College, Rewa, Madhya Pradesh, India

Date of Web Publication6-Jun-2014

Correspondence Address:
Vidya Bhushan Singh
F-15/1, New Doctors Colony, Arjun Nagar, Rewa - 486 001, Madhya Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0975-7341.134017

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  Abstract 

Introduction: Split hand/foot (SHSF) malformation is characterized by variable suppression of central digital rays. It is a rare congenital hand and foot anomaly usually showing autosomal dominant pattern of inheritance. We report this rare anomaly of hand and foot in a family with 13 cases to discuss its inheritance pattern and clinical features. Observation: One family of 27 members has been identified in which 13 members are affected. The disease has been running dominantly in the family and variably affecting both males and females. Morphologically there is partial or complete absence of central second to fourth digital rays with variable syndactyly and bony changes in adjacent rays. Conclusion: SHSF malformation is type of longitudinal arrest of development of central digital rays. Various theories regarding causation of disease have been proposed. The presentation of disease varies due to varying severity of involvement. Early appropriate surgical intervention is essential in selected cases to achieve a good functional limb.

Keywords: Malformation, split foot, split hand


How to cite this article:
Singh VB, Mishra A, Chaurasia AK, Lakhtakia PK. Split hand/foot malformation: Report of 13 cases in a family with variable presentation. J Orthop Traumatol Rehabil 2014;7:53-5

How to cite this URL:
Singh VB, Mishra A, Chaurasia AK, Lakhtakia PK. Split hand/foot malformation: Report of 13 cases in a family with variable presentation. J Orthop Traumatol Rehabil [serial online] 2014 [cited 2019 May 26];7:53-5. Available from: http://www.jotr.in/text.asp?2014/7/1/53/134017


  Introduction Top


Split hand/foot (SHSF) malformation is also called cleft hand, lobster claw hand and ectrodactyly. [1],[2] It is a form of congenital absence of one or more central rays resulting in a cleft-shaped defect in hand and foot affecting the terminal part. Its incidence is 1/90,000 live births with no sex predilection. [3] For prenatal diagnosis of SHSF, three-dimensional ultrasonography is very useful. [4] Most of the patients live a normal life with very little functional impairment of limbs. [5] We have identified and described a large family, which has been affected by this rare anomaly involving both hands and feet. We report this rare anomaly of hand and foot to discuss its inheritance pattern, clinical features, and appropriate management.


  Observation Top


One family of seattle heart failure model was identified in a rural area of Rewa District of M.P. in March 2012 and pedigree chart of the family including three generations was drawn [Chart 1]. Disease was dominantly running in family and involving both males and females (autosomal dominant pattern) however only 13 members were symptomatic among 27 blood related members in the family carrying genetic mutation (reduced penetrance). Main complaint of family members were splitting of hands and feet leading to difficulty in holding the articles and wearing shoes. There was no history of consanguineous marriage. Antenatal and peri-natal history did not reveal any significant fact. Thirteen patients of which 11 were males and two were males were examined. Nine cases had affection of both hands and feet. Two cases had involvement of feet only. One case had involvement of both hand and one foot. There was one case with variable syndactyly in hands and feet with minimal soft-tissue clefting. Thus among 13 involved cases, 22 hands and 25 feet were found affected. There are many variations in the extent of the clefting (variable expressibility), which may be profound or minimal depending on the number and extent of suppression of digital rays [Figure 1], [Figure 2], [Figure 3], [Figure 4]. Hand grip of affected individuals was usually good [Figure 5]b and c, except in those hands where border digits were widely deviated due to the presence of syndactyly of adjacent rays and or presence of transverse bone (cross bone) in the cleft [Figure 3]a and b.
Figure 1: Complete suppression of central three rays leading to the uncommon two-fingered form in which only the border digits are found (a-d). The cleft is deep and extending down to the carpus/tarsus. Partial suppression of central three rays (e)

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Figure 2: Complete suppression of central second and third rays (a and b). Incomplete suppression of central second and third rays. Two metatarsals are supporting one phalanx (c and d)

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Figure 3: Variable suppression of central one ray. Syndactyly between adjacent rays and transverse bone in the cleft leading to progressive widening of cleft. Transverse bone articulates with the metacarpophalangeal joints forming a triangle (a-d)

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Figure 4: Minimal central clefting due to variable syndactyly between 1st-2nd and 3rd-4th digits without bony suppression of rays (soft-tissue clefting)

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Figure 5: Although hands/feet of family members look severely malformed (a) but function is usually good even in two fingered hand (b and c)

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  Discussion Top


Central defects of the hand have been divided into typical and atypical. Typical or true split hand is characterized by unilateral or bilateral central defects of the hands, usually with one or more digital rays reduced or absent. The condition has a genetic basis and may be hereditary. On the other hand, atypical split hand (symbrachydactyly) has no hereditary basis and is sporadic in occurrence. Morphologically, atypical split hand has U-shaped central defect due to intercalary or transverse absence of the fingers, often with small nubbins of finger and nail tissue remaining. [5] Typical SHSF malformation is an autosomal dominant condition resulting in a wedge-shaped defect of the apical ectoderm of the limb bud around 6 th intrauterine week. Incomplete penetrance of the SHSF gene from affected individual results in structural abnormalities in only 2/3 rd of the cases. [6],[7] A missense mutation in P63 gene at chromosome 3q27 has been identified in families of SHSF malformation and ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. [8] The condition expresses itself in varying severity. In the mildest form of the defect, the phalanges of the long finger are missing, but the metacarpal is intact whereas in more extreme form, the entire third ray may be missing. [1] It is a type-1 failure of formation - longitudinal arrest. Maisels' proposed a centripetal theory that revealed progression of clefting, from a simple, central, soft-tissue defect to the complete absence of all digits and suppression progressing in a radial direction. [9] Associated anomalies in the form of syndactyly and polydactyly may be found in the same hand with syndactyly of the index and thumb being more common. Naruse et al. have emphasized the association between polydactyly, syndactyly, and cleft hand and have suggested that central polydactyly leads to cleft formation by the progressive syndactyly of adjacent rays. [10] Cleft hand may be associated with various syndromes such as EEC syndrome which is an association of cleft hand, cleft lip/palate, abnormal dentition, and hair changes. [11] Although the hands of these children are malformed, the function is often excellent. Surgery for patients, who have functionally adapted well to their malformation, should not be attempted just for achieving better appearance. Goals of hand surgery are to achieve good pinch and grasp followed by acceptable cosmesis if possible. Surgical reconstruction includes early release of syndactyly, closure of the cleft, correction of thumb adduction contracture and removal of transverse or other deforming bony elements. Syndactyly should be released first, with border digits by 6 months and central digits by 18 months. After 6 months, cleft is closed either alone or combinations with thumb adduction deformity. [12] Snow and Littler described technique of simultaneous correction of cleft and thumb adduction deformity. [13] Abraham classified the cleft into three types. Type-1 cleft foot has a deficiency of central second or third ray or both and extending up to mid-metatarsal level. For this type of foot soft-tissue syndactylism with partial hallux valgus correction has been recommended. Type II has a deep cleft up to the tarsal bones with forefoot splaying, for which they recommended soft-tissue syndactylism, with first-ray osteotomy if needed, before age 5 years. Type III is a complete absence of the first through third or fourth rays, for which they did not recommend surgery. [14] Whatever type of cleft, early appropriate management is essential to achieve good functional hand and foot. Management of limb anomaly is a multidisciplinary approach involving obstetrician, sonologist, clinical geneticist, neonatologist and pediatric orthopedic surgeon.

 
  References Top

1.Barsky AJ. Cleft hand: Classification, incidence, and treatmenT. Review of the literature and report of nineteen cases. J Bone Joint Surg Am 1964;46:1707-20.  Back to cited text no. 1
[PUBMED]    
2.Swanson AB. A classification for congenital limb malformations. J Hand Surg Am 1976;1:8-22.  Back to cited text no. 2
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3.Jindal G, Parmar VR, Gupta VK. Ectrodactyly/split hand feet malformation. Indian J Hum Genet 2009;15:140-2.  Back to cited text no. 3
[PUBMED]  Medknow Journal  
4.Rios LT, Araujo Júnior E, Caetano AC, Nardozza LM, Moron AF, Martins MG. Prenatal Diagnosis of EEC syndrome with "lobster claw" anomaly by 3D ultrasound. J Clin Imaging Sci 2012;2:40.  Back to cited text no. 4
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5.Li WJ, Zhao JH, Tian W, Tian GL. Congenital symbrachydactyly: Outcomes of surgical treatment in 120 webs. Chin Med J (Engl) 2013;126:2871-5.  Back to cited text no. 5
    
6.Duijf PH, van Bokhoven H, Brunner HG. Pathogenesis of split-hand/split-foot malformation. Hum Mol Genet 2003;12 Spec No 1:R51-60.  Back to cited text no. 6
    
7.Zguricas J, Bakker WF, Heus H, Lindhout D, Heutink P, Hovius SE. Genetics of limb development and congenital hand malformations. Plast Reconstr Surg 1998;101:1126-35.  Back to cited text no. 7
    
8.Ianakiev P, Kilpatrick MW, Toudjarska I, Basel D, Beighton P, Tsipouras P. Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am J Hum Genet 2000;67:59-66.  Back to cited text no. 8
    
9.Maisels DO. Lobster-claw deformities of the hand. Hand 1970;2:79-82.  Back to cited text no. 9
[PUBMED]    
10.Naruse T, Takahara M, Takagi M, Ogino T. Early morphological changes leading to central polydactyly, syndactyly, and central deficiencies: An experimental study in rats. J Hand Surg Am 2007;32:1413-7.  Back to cited text no. 10
    
11.Marwaha M, Nanda KD. Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome). Contemp Clin Dent 2012;3:205-8.  Back to cited text no. 11
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12.Jobe MT. Cleft hand - Central deficiencies. In: Canale ST, Beaty JH, editors. Campbell's Operative Orthopaedics. 11 th ed. Mosby/Elsivier; 2007. p. 4391-9.  Back to cited text no. 12
    
13.Rider MA, Grindel SI. An experience of Snow - Littler procedure. J Hand Surg Br 2000;25:376-81.  Back to cited text no. 13
    
14.Abraham E, Waxman B, Shirali S, Durkin M. Congenital cleft-foot deformity treatment. J Pediatr Orthop 1999;19:404-10.  Back to cited text no. 14
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

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