Fanconi Anemia Concurrent with an Unusual Thumb Polydactyly: A Case Report

Document Type : CASE REPORT


Department of Orthopedics, Imam Khomeini Hospital, Urmia University of Medical Sciences, Urmia, Iran


This case report presents a case of Fanconi’s Anemia with an unusual thumb polydactyly in a 2-year old boy. The extra thumb had no nail, nail bed and distal phalanx. The extra thumb had no active motion.The duplication of the thumb occurred at the carpometacarpal joint but its morphology did not match with any classification described for thumb polydactyly. Although his thumb polydactyly was apparent at birth, Fanconi’s anemia was not suspected until during a routine pre-operative laboratory test (CBC) for the elective surgery of his thumb. An early diagnosis of FA is important and the hand surgeons may be the first to have the opportunity to suspect and diagnose the underlying life threatening disorder. This case report presented an opportunity to diagnosis a fatal disorder by a routine pre operative laboratory test. To the best of my knowledge, the phenotype of the thumb polydactyly of the current case has not yet reported.


  1. Eiler ME, Frohnmayer D, Frohnmayer L, Larsen K, Owen J. Fanconi Anemia: Guidelines for Diagnosis and Management. 3th ed. New York: Fanconi Anemia Research, Inc; 2008.
  2. Alter BP. Arm anomalies and bone marrow failure may go hand in hand. J Hand Surg Am. 1992; 17(3):566-71.
  3. Webb ML, Rosen H, Taghinia A, McCarty ER, Cerrato F, Upton J, et al. Incidence of Fanconi anemia in children with congenital thumb anomalies referred for diepoxybutane testing. J Hand Surg Am. 2011; 36(6):1052-7.
    1. Al-Qattan MM. Fanconi anemia with concurrent thumb polydactyly and dorsal dimelia: a case report with discussion of embryology. Ann Plast Surg. 2013; 70(1):116-8.
    2. Wilks DJ, Kay SP, Bourke G. Fanconi’s anaemia and unilateral thumb polydactyly--don’t miss it. J Plast Reconstr Aesthet Surg. 2012; 65(8):1083-6.
    3. De Kerviler E, Guermazi A, Zagdanski AM, Gluckman E, Frija J. The clinical and radiological features of Fanconi’s anaemia. Clin Radiol. 2000; 55(5):340-5.
    4. Glanz A, Fraser FC. Spectrum of anomalies in Fanconi anaemia. J Med Genet. 1982; 19(6):412-6.
    5. Wassel HD. The results of surgery for polydactyly of the thumb. Clin Orthop Relat Res. 1969; 64(22):175-93.
    6. Zuidam JM, Selles RW, Ananta M, Runia J, Hovius SE. A classification system of radial polydactyly: inclusion of triphalangeal thumb and triplication. J Hand Surg Am. 2008, 33(3):373-7.