Abstract
For years people have been enamored by anomalies of the human limbs, particularly supernumerary and absent limbs and digits. Historically, there are a number of examples of such anomalies, including royal families of ancient Chaldea, tribes from Arabia, and examples from across nineteenth century Europe. The development of the upper limbs in a growing embryo is still being elucidated with the recent advent of homeobox genes, but researchers agree that upper limbs develop between stages 12–23 through a complex embryological process. Maternal thalidomide intake during limb development is known to cause limb reduction and subsequent amelia or phocomelia. Additionally, a number of clinical reports have illustrated different limb anomaly cases, with each situation unique in phenotype and developmental abnormality. Supernumerary and absent limbs and digits are not unique to humans, and a number of animal cases have also been reported. This review of the literature illustrates the historical, anatomical, and clinical aspects of supernumerary and absent limbs and digits for the upper limb.
Similar content being viewed by others
References
Al Kaissi A, Chehida FB, Nassib N, Djnziri HSM, Ghachem MB, Gharbi H (2005) Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia. Afr Health Sci 5:270–275
Al Kaissi A, Ghachem MB, Necib MN, Chehida FB, Karoui H, Baraitser M (2002) Hypohidrotic ectodermal dysplasia with tibial aplasia. Clin Dys 11:175–178
Andral G, Townsend R, West W (1829) A treatise on pathological anatomy. Hodges and Smith, Dublin, pp 185
Arbues J, Galindo A, Puente JM, Vega MG, Hernandez M, de la Fuente P (2005) Typical isolated ectrodactyly of hands and feet: early antenatal diagnosis. J Matern Fetal Neonatal Med 17:299–301
Barrand KR (2004) Ectrodactyly in a West Highland white terrier. J Small Anim Pract 45:315–318
Basaran S, Yuksel A, Ermis H, Kuseyri F, Agan M, Yuksel-Apak M (1994) Tetra-amelia, lung hypoplasia, cleft lip-palate, and heart defect: a new syndrome. Am J Med Genet 51:77–80
Busch R, Kjaer K (2002) Ectrodactyly and Germany’s eugenics law of 14 July 1933. Am J Genet 110:184–190
Cummins H (1931) Spontaneous amputation of human supernumerary digits: pedunculated postminimi. Am J Anat 51:381–416
de Ravel TJ, Seftel MD, Wright CA (1997) Tetra-amelia and splenogonadal fusion in Roberts syndrome. Am J Med Genet 68:185–189
Froster-Iskenius UG, Baird PA (1990) Amelia: incidence and associated defects in a large population. Teratology 41:23–31
Fulmer BB, Wilkins RH, Oakes WJ, Filston HC (1997) Midline dorsal appendages. Pediatr Neurosurg 27:242–245
Gershoni-Baruch R, Drugan A, Bronshtein M, Zimmer EZ (1990) Roberts syndrome or “X linked amelia”? Am J Med Genet 37:569–572
Gesase AP (2006) Bilateral hands and feet postaxial polydactyly presenting with renal vascular anomalies. Ital J Anat Embryol 111:179–186
Gould W, Pyle L (1896) Anomalies and curiosities of medicine. Bell Publishing Co., New York, pp 263–276
Graham TJ, Ress AM (1998) Finger polydactyly. Hand Clin 14:49–64
Hare PJ (1954) Rudimentary polydactyly. Br J Dermatol 66:402–408
Humphries R, Manwaring K, Carroll N (1991) Accessory arm—dysraphism of disparity? J Neurosurg 74:297–300
Kher AS, Gahankari DR, Tambwekar SR, Doraiswamy A, Iyer S, Bharucha BA, Rana RE (1996) Supernumerary limbs: a case report of a rare congenital anomaly. Ann Plast Surg 37:549–552
Leber GE, Gosain AK (2003) Surgical excision of pedunculated supernumerary digits prevents traumatic amputation neuromas. Pediatr Dermatol 20:108–112
Martínez-Frías ML, Bermejo E, Aparicio P, Blanco M, Burón E, Cuevas L, Espinosa MJ, Fondevilla J, Gallo M, Hernández F, Marco JJ, Martínez S, Morales MC, Mújica I, Paisán L, Valdivia L (1997) Amelia: analysis of its epidemiological and clinical characteristics. Am J Med Genet 73:189–193
Ming JE, McDonald-McGinn DM, Megerian TE, Driscoll DA, Elias ER, Russell BM, Irons M, Emanuel BS, Markowitz RI, Zackai EH (1997) Skeletal anomalies and deformities in patients with deletions of 22q11. Am J Med Genet 72:210–215
Niemann S, Zhao C, Pascu F, Stahl U, Aulepp U, Niswander L, Weber JL, Muller U (2004) Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. Am J Hum Genet 74:558–563
Ohro Y, Suzuki Y, Tsutsumi Y, Ogata T (1998) Female external genitalia, absent uterus, and probable agonadism in a 46, XY infant with bilateral upper amelia. Clin Genet 54:52–55
Pfeiffer RA, Santelmann R (1977) Limb anomalies in chromosomal aberrations. Birth Defects Orig Artic Ser 13:319–337
Rainwater TR, McMurray ST, Platt SG (1999) Ectromelia in Morelet’s crocodile from Belize. J Wildlife Dis 35:125–129
Roberts JB (1919) A child with double cleft of lip and palate, protrusion of the intermaxillary portion of the upper jaw and imperfect development of the bones of the four extremities. Ann Surg 70:252–254
Romke C, Froster-Iskenius U, Heyne K, Hohn W, Hof M, Grzejszczyk G, Rauskolb R, Rehder H, Schwinger E (1987) Roberts syndrome and SC phocomelia: a single genetic entity. Clin Genet 31:170–177
Rosenak D, Ariel I, Arnon J, Diamant AYZ, Chetrit AB, Nadjari M, Zilberman R, Yaffe H, Cohen T, Ornoy A (1991) Recurrent tetraamelia and pulmonary hypoplasia with multiple malformations in sibs. Am J Med Genet 38:25–28
Ruble R, Silverman S, Pisenti J, Wakenell P (2002) Amelia/ectromelia in association with scoliosis in three commercial layer hens (Gallus gallus forma domestica). Avian Pathol 31:429–433
Song SY, Chi JG (1996) Tri-amelia and phocomelia with multiple malformations resembling Roberts syndrome in a fetus: is it a variant or a new syndrome? Clin Genet 50:502–504
Standring S (ed) (2005) Pectoral girdle and upper limb, chapter 54. Development of the limbs. Gray’s anatomy, 39th edn. Elsevier Churchill Livingstone, New York, pp 935, 937, 941–942
Stroer WFH (1939) Ueber das Zusammentreffen von Hasenscharte mit ernsten Extremitaeten-Missbildungen. Erbarzt 7:101–104
Swanson AB (1976) A classification for congenital limb malformations. J Hand Surg 1:8–22
Temocin AK, Yuksel B, Tuncer R, Ozer G, Zorludemir U (1997) A case of ambiguous genitalia with unilateral amelia and unilateral peromelia of the upper limbs. Acta Paediatr Jpn 39:631–633
Tomkins D, Hunter A, Roberts M (1979) Cytogenetic findings in Roberts-SC phocomelia syndrome(s). Am J Med Genet 4:17–26
Waldenmaier C, Aldenhoff P, Klemm T (1978) Roberts’ syndrome. Hum Genet 40:345–349
Wilder S (1907) Communications of the Massachusetts Medical Society, vol II, no. 3. In: Thomas WI (ed) Sex and society studies in the social psychology of sex. The University of Chicago Press, Chicago, 1813:27, pp 9
Zergollern L, Hitrec V (1982) Four siblings with Roberts’ syndrome. Clin Genet 21:1–6
Zimmer EZ, Taub E, Sova Y, Divon MY, Pery M, Peretz BA (1985) Tetra-amelia with multiple malformations in six male fetuses of one kindred. Eur J Pediatr 144:412–414
Zlotogora J, Sagi M, Shabany YO, Jarallah RY (1993) Syndrome of tetraamelia with pulmonary hypoplasia. Am J Med Genet 47:570–571
Conflict of interest
The authors declare that they have no conflict of interest.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Klaassen, Z., Choi, M., Musselman, R. et al. A review of supernumerary and absent limbs and digits of the upper limb. Surg Radiol Anat 34, 101–106 (2012). https://doi.org/10.1007/s00276-011-0871-1
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00276-011-0871-1