Absent Digits in the Hands or Feet

  • Benjamin Joseph


Reduction in the normal number of digits of the hand or foot may occur as a consequence of failure of formation (agenesis) due to a definite genetic mutation or as a consequence of intrauterine amputation due to constriction by an amniotic band (Dy et al. 2014; Petit et al. 2014). Agenesis of the digits may represent a transverse terminal deficiency where fingers or toes alone are missing or the failure of formation of the digits may be part of a more extensive longitudinal deficiency; longitudinal deficiencies are far more common than transverse deficiencies (Makhoul et al. 2003). The number of missing digits does not necessarily reflect the degree of aplasia of the proximal bones (Petit et al. 2014; Del Campo et al. 1999) (Fig. 11.1). Often, more than one limb is affected, and the pattern of deficiencies may be similar in the affected limbs, or the patterns may be quite dissimilar (Ferda Percin and Yilmaz 2003).


Proximal Bone Amniotic Band Fibular Hemimelia Chorionic Villous Sampling Constriction Band 
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  1. Al-Qattan MM. Classification of the pattern of intrauterine amputations of the upper limb in constriction ring syndrome. Ann Plast Surg. 2000;44:626–32.PubMedCrossRefGoogle Scholar
  2. Barros M, Gorgal G, Machado AP, et al. Revisiting amniotic band sequence: a wide spectrum of manifestations. Fetal Diagn Ther. 2014;35:51–6.PubMedCrossRefGoogle Scholar
  3. Courtens W, Jespers A, Harrewijn I, et al. Fibular aplasia, tibial campomelia, and oligosyndactyly in a male newborn infant: a case report and review of the literature. Am J Med Genet A. 2005;134:321–5.PubMedCrossRefGoogle Scholar
  4. Del Campo M, Jones MC, Veraksa AN, et al. Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster. Am J Hum Genet. 1999;65:104–10.PubMedCentralPubMedCrossRefGoogle Scholar
  5. Dy CJ, Swarup I, Daluiski A. Embryology, diagnosis, and evaluation of congenital hand anomalies. Curr Rev Musculoskelet Med. 2014;7:60–7.PubMedCentralPubMedCrossRefGoogle Scholar
  6. Ferda Percin E, Yilmaz S. Unusual combination of limb malformations in the same patient: brachydactyly with syndactyly and postaxial polydactyly of the hands and postaxial oligodactyly of the feet. Clin Dysmorphol. 2003;12:283–4.PubMedCrossRefGoogle Scholar
  7. Fuhrmann W, Fuhrmann-Rieger A, de Sousa F. Poly-, syn- and oligodactyly, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs–a new autosomal recessive syndrome. Eur J Pediatr. 1980;133:123–9.PubMedCrossRefGoogle Scholar
  8. Goldfarb CA, Sathienkijkanchai A, Robin NH. Amniotic constriction band: a multidisciplinary assessment of etiology and clinical presentation. J Bone Joint Surg Am. 2009;91 Suppl 4:68–75.PubMedCrossRefGoogle Scholar
  9. Inusha P, Prasad KK. Radial aplasia with oligodactyly. Indian J Hum Genet. 2008;14:29–30.PubMedCentralPubMedCrossRefGoogle Scholar
  10. Karaman A, Kahveci H. A male newborn infant with fatco syndrome (fibular aplasia, tibial campomelia and oligodactyly): a case report. Genet Couns. 2010;21:285–8.PubMedGoogle Scholar
  11. Magee T, Mackay DR, Segal LS. Congenital constriction band with pseudarthrosis of the tibia: a case report and literature review. Acta Orthop Belg. 2007;73:275–8.PubMedGoogle Scholar
  12. Majewski E, Goecke T, Meinecke P. Ectrodactyly and absence (hypoplasia) of the tibia: are there dominant and recessive types? Am J Med Genet. 1996;63:185–9.PubMedCrossRefGoogle Scholar
  13. Makhoul IR, Goldstein I, Smolkin T, et al. Congenital limb deficiencies in newborn infants: prevalence, characteristics and prenatal diagnosis. Prenat Diagn. 2003;23:198–200.PubMedCrossRefGoogle Scholar
  14. Malik S, Afzal M. Ulnar aplasia, dysplastic radius and preaxial oligodactyly: rare longitudinal limb defect in a sporadic male child. J Res Med Sci. 2013;18:818–21.PubMedCentralPubMedGoogle Scholar
  15. Malik S, Riaz HF. Terminal transverse deficiency of fingers, symbrachydactyly with anonychia of toes, and congenital scalp defect: case report of a subject with Adams-Oliver syndrome. Pak J Med Sci. 2012;28:231–4.Google Scholar
  16. McGuirk CK, Westgate MN, Holmes LB. Limb deficiencies in newborn infants. Pediatrics. 2001;108:E64.PubMedCrossRefGoogle Scholar
  17. Petit F, Jourdain AS, Andrieux J, et al. Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families. Clin Genet. 2014;85:464–9.PubMedCrossRefGoogle Scholar
  18. Tos T, Karaman A, Gul D. A boy with Weyers-like ulnar ray/oligodactyly reduction limb defects and split hand malformation: case report. Genet Couns. 2011;22:245–8.PubMedGoogle Scholar
  19. Wada A, Nakamura T, Fujii T, et al. Limb salvage treatment for Gollop-Wolfgang complex (femoral bifurcation, complete tibial hemimelia, and hand ectrodactyly). J Pediatr Orthop B. 2013;22:457–63.PubMedCrossRefGoogle Scholar

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© Springer India 2015

Authors and Affiliations

  • Benjamin Joseph
    • 1
  1. 1.Aster MedcityKochiIndia

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