Type of Article:  Case Study

Volume 5; Issue 1 (January 2017)

Page No.: 3457-3460

DOI: https://dx.doi.org/10.16965/ijar.2016.428


M.Yesender, N.Himabindu, S.Saritha, B. Sadananda rao, T.V. Ramani, Nagajyothi.

Department of Anatomy, KAMS & RC, Hyderabad Telangana, India.

Address for Correspondence: Dr. M.Yesender, Department of Anatomy, KAMS & RC, Hyderabad Telangana, India.
E-Mail: matteda.yesender@gmail.com


Introduction: The Lobster Claw Deformity is a form of Ectrodactyly and is a rare combination of ectodermal dysplasia. The Lobster claw deformity is also known as the split hand /foot malformation (SHFM) it is a heterogeneous limb developmental disorder characterized by missing digits and fusion of remaining digits. The pathophysiology of split hand and foot is mainly because of wedge shaped defect of the apical ectoderm of the limb bud.

Aim: The present study aims to provide prominent roots in transmitting and expressivity of lobster claw hand and foot linked to genetic expression.

Materials and Methods: We present two cases of split hand and foot which includes two female siblings aged 7 and 6 years old during routine cases attending the OPD in a private nursing home. The ethical committee permission was taken. Permission was also taken from their parents of respective cases to publish the article.

Conclusion: This scientific paper adopted to illustrate this rare congenital disorder Lobster claw hand/foot malformations. These examples demonstrate understanding of Ectrodactyly coordinating with clinical examination, radiological and genetic investigations.

Key words: Split hand/foot malformation (SHFM), Ectrodactyly, lobster claw hand/foot Autosomal dominant, autosomal recessive.


  1. J.Cyrlac, E.Lashpa. Lobster- claw hand: A manifestation of EEC syndrome. Indian J Dermatol Venereal Leprol. January- February 2006;72:1.
  2. Moore Keith L, Persaud T.V.N: The developing human clinically oriented embryology, Chapter 17, The Limbs, 7th Edition, SAUNDERS First Indian Reprint 2003, pp 410 23.
  3. Michael A et al. Characterization of the split hand /split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. Human Molecular Genetics. 1996;5(5):571-579.
  4. Henrion R, and et al. Prenatal diagnosis of Ectrodactyly. Lancet 1980;2:319 (Medline).
  5. Arbus J. and et al. Typical isolated Ectrodactyly of hands and feet: early antenatal diagnosis: Journal of maternal fetal neonatal medicine, 2005;17:299-01(Medline).
  6. Pinette Micheal, and et al. Familial Ectrodactyly: Journal of ultrasound medicine November 1, 2006;25(11):1465 67.
  7. Langmans Medical Embryology T.W. Sadler, edition 13th chapter 12, Lippincott Willkins published by wolters kulwer Health India private ltd. New Delhi 2011, 170-171.
  8. Verma, I., Joseph, R., Bhargava, S. and Mehta,S. Split –hand /split- foot deformity inherited as an autosomal recessive trait. Clni.Genet., 1976;9:8-14.
  9. Faiyaz-ul-Haque, M., Uhlhaas. S., Knapp, M., Schuler, HJ., Friedl, W., Ahmad, M. and Propping, P.(1993)Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26-q26.1.Hum. Genet., 1993;91:17-19.
  10. Temtamy, S.A and McKusick, V.A. In the Genetics of Hand malformations. Alan R. Liss, Inc., New York, 1978;53-71.
  11. Jarvik, G.P., Patton, M.A., Homfray, T. and Evans, J.P.(1994)Non –mendelian transmission in a human developmental disorder: split hand /split foot.Am.J.Hum. Genet., 1994;55:710-713.
  12. Susan Standring. Gray’s Anatomy, 40thAnatomical basis of clinical practice, Churchill livingstone, London.2008;51:902.
  13. Rudiger RA , Haase W , Passarge E. Association of Ectrodactyly , ectodermal dysplasia and cleft lip- palate – the EEC syndrome. Am J Dis Child 1970;120:160-3.
  14. Cockayne EA. Cleft palate –lip , hare lip , dacryocystitis, and cleft hand and foot. Biometrika 1936;28:60-3.
  15. South AP, Ashton GH, Willoughby C, Ellis IH, Bleck O, Hamada T, et al. EEC(Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA- based prenatal diagnosis. Br J Dermatol. 2002;146:216-20.
  16. Karl-Heinz Grzeschik Human limb malformations; an approach to the molecular basis of development Int.J.Dev.Biol. 2002;46:983-991.

Cite this article: M. Yesender, N. Himabindu, S. Saritha, B. Sadananda rao, T.V. Ramani, Nagajyothi. CHARACTERIZATION OF LOBSTER HAND/FOOT MALFORMATIONS WITH GENETIC EXPRESSION: A FAMILIAL STUDY. Int J Anat Res 2017;5(1):3457-3460. DOI: 10.16965/ijar.2016.428