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A Rare and Severe Case of Split-Hand/Foot Malformation in a Child in India

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DOI: 10.4236/ojo.2014.46026    2,681 Downloads   3,590 Views   Citations
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Sunil H. Shetty, Ravindra G. Khedekar, Mishil Parikh, Nikita Shetty


Hospital & Research Center, Pad. Dr. D. Y. Patil Medical College, Navi Mumbai, India.


Ectrodactyly, termed Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition characterized by defects of the central elements of the autopod (hand/foot). Clinical presentation is with the absence of one or more median rays or digits creating cone shaped clefts of the hands and/or feet. The present case of severe bilateral split-hand and foot malformations was presented in an 8-year-old girl in India. This case of SHFM involves the complete absence of the central rays of the autopod in which each of the hands and each foot is divided into two parts by a coned shape cleft tapering proximally, resembling a “lobster claw”. SHFM is often associated with other limb anomalies including monodactyly, syndactyly and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Most cases are sporadic; however familial forms do exist with pre-dominantly autosomal dominant inheritance. This case is an example of the non-syndromic form of SHFM expressed with isolated involvement of the limbs, while the syndromic form is associated with anomalies as intellectual disability, ectodermal and craniofacial findings and hearing loss. Non-syndromic isolated ectrodactyly does not usually require surgical intervention. We recommended against surgical reconstruction, due to lack of evidence of functional disability.


Congenital Limb Deformities, Split-Hand/Split-Foot Malformation, Ectrodactyly

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Shetty, S. , Khedekar, R. , Parikh, M. and Shetty, N. (2014) A Rare and Severe Case of Split-Hand/Foot Malformation in a Child in India. Open Journal of Orthopedics, 4, 157-160. doi: 10.4236/ojo.2014.46026.

Conflicts of Interest

The authors declare no conflicts of interest.


[1] #183600 Split-hand/foot malformation 1; SHFM1, Online Mendelian Inheritance in Man (OMIM) Catalog of Human Genes and Genetic Disorders.
[2] Duijf, P., van Bokhoven, H. and Brunner, H.G. (2003) Pathogenesis of Split-Hand/Split-Foot Malformation. Human Molecular Genetics, 12, R51-R60.
[3] Lango Allen, H., Caswell, R., Xie, W., Xu, X., Wragg, C., Turnpenny, P.D., Turner, C.L., Weedon, M.N. and Ellard, S. (2014) Next Generation Sequencing of Chromosomal Rearrangements in Patients with Split-Hand/Split-Foot Malformation Provides Evidence for DYNC1I1 Exonic Enhancers of DLX5/6 Expression in Humans. Journal of Medical Genetics, 51, 264-267.
[4] Manske, P.R. and Halikis, M.N. (1995) Surgical Classification of Central Deficiency According to the Thumb Web. Journal of Hand Surgery, 20, 687-697.

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