Abstract
Apert syndrome is a rare congenital disorder characterized by craniosynostosis, midface hypoplasia, and bilateral syndactyly of the hands and feet. Characteristic hand anomalies include a short thumb with radial clinodactyly; involvement of the first web space with varying degrees of syndactyly between the thumb and index finger; complex syndactyly between the index, long, and ring fingers typically at the level of the distal interphalangeal joints or beyond; and variable degrees of syndactyly between the ring and small fingers. Reconstruction of the hand involves a series of staged procedures that are performed with the goal of minimizing the number of procedures, maximizing the functional outcome of the hand, and providing a favorable cosmetic result. The techniques and preferences of several groups and their outcomes are reviewed in this chapter.
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Cohen Jr MM, Kreiborg S. An updated pediatric perspective on the Apert syndrome. Am J Dis Child. 1993;147:989–93.
Perlyn CA, Nichols C, Woo A, Becker D, Kane AA. Le premier siècle: one hundred years of progress in the treatment of Apert syndrome. J Craniofac Surg. 2009;20:801–6.
Apert E. De l’acrocephalosyndactlie. Bull Mem Soc Med Hop Paris. 1906;23:1310.
Park EA, Powers GF. Acrocephaly and scaphocephaly with symmetrically distributed malformations of the extremities: a study of the so-called “acrocephalosyndactylism”. Am J Dis Child. 1920;20:235–315.
Blank CE. Apert’s syndrome (a type of acrocephalosyndactyly)-observations on a British series of thirty-nine cases. Ann Hum Genet. 1960;24:151–64.
Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet. 1995;9:165–72.
Lee DS, Chung KC. Eugène Apert and his contributions to plastic surgery. Ann Plast Surg. 2010;64:362–5.
Hoover GH, Flatt AE, Weiss MW. The hand and Apert’s syndrome. J Bone Joint Surg Am. 1970;52:878–95.
Au PKC, Kwok YKY, Leung KY, Tang LYF, Tang MHY, Lau ET. Detection of the S252W mutation in fibroblast growth factor receptor 2 (FGFR2) in fetal DNA from maternal plasma in a pregnancy affected by Apert syndrome. Prenat Diagn. 2011;31:218–20.
Lajeunie E, Cameron R, El Ghouzzi V, de Parseval N, Journeau P, Gonzales M, et al. Clinical variability in patients with Apert’s syndrome. J Neurosurg. 1999;90:443–7.
Yu K, Herr AB, Waksman G, Ornitz DM. Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome. Proc Natl Acad Sci U S A. 2000;97:14536–41.
Ibrahimi OA, Eliseenkova AV, Plotnikov AN, Yu K, Ornitz DM, Mohammadi M. Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. Proc Natl Acad Sci U S A. 2001;98:7182–7.
Oldridge M, Zackai EH, McDonald-McGinn DM, Iseki S, Morriss-Kay GM, Twigg SR, et al. De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. Am J Hum Genet. 1999;64:446–61.
Glaser RL, Broman KW, Schulman RL, Eskenazi B, Wyrobek AJ, Jabs EW. The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm. Am J Hum Genet. 2003;73:939–47.
Goriely A, McVean GAT, Röjmyr M, Ingemarsson B, Wilkie AOM. Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science. 2003;301:643–6.
Quintero-Rivera F, Robson CD, Reiss RE, Levine D, Benson C, Mulliken JB, et al. Apert syndrome: what prenatal radiographic findings should prompt its consideration? Prenat Diagn. 2006;26:966–72.
David AL, Turnbull C, Scott R, Freeman J, Bilardo CM, van Maarle M, et al. Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasound. Prenat Diagn. 2007;27:629–32.
Tolarova MM, Harris JA, Ordway DE, Vargervik K. Birth prevalence, mutation rate, sex ratio, parents’ age, and ethnicity in Apert syndrome. Am J Med Genet. 1997;72:394–8.
Cohen Jr MM, Kreiborg S, Lammer EJ, Cordero JF, Mastroiacovo P, Erickson JD, et al. Birth prevalence study of the Apert syndrome. Am J Med Genet. 1992;42:655–9.
Rice DP. Clinical features of syndromic craniosynostosis. Front Oral Biol. 2008;12:91–106.
Fearon JA, Podner C. Apert syndrome: evaluation of a treatment algorithm. Plast Reconstr Surg. 2013;131:132–42.
Kreiborg S, Cohen Jr MM. Is craniofacial morphology in Apert and Crouzon syndromes the same? Acta Odontol Scand. 1998;56:339–41.
Oberoi S, Hoffman WY, Vargervik K. Craniofacial team management in Apert syndrome. Am J Orthod Dentofacial Orthop. 2012;141:S82–7.
Cohen Jr MM, Kreiborg S. The central nervous system in the Apert syndrome. Am J Med Genet. 1990;35:36–45.
Renier D, Arnaud E, Cinalli G, Sebag G, Zerah M, Marchac D. Prognosis for mental function in Apert’s syndrome. J Neurosurg. 1996;85:66–72.
Yacubian-Fernandes A, Palhares A, Giglio A, Gabarra RC, Zanini S, Portela L, et al. Apert syndrome: factors involved in the cognitive development. Arq Neuropsiquiatr. 2005;63:963–8.
Cohen Jr MM, Kreiborg S. Visceral anomalies in the Apert syndrome. Am J Med Genet. 1993;45:758–60.
Cohen Jr MM, Kreiborg S. Cutaneous manifestations of Apert syndrome. Am J Med Genet. 1995;58:94–6.
Upton J. Apert syndrome. Classification and pathologic anatomy of limb anomalies. Clin Plast Surg. 1991;18:321–55.
Van Heest AE, House JH, Reckling WC. Two-stage reconstruction of apert acrosyndactyly. J Hand Surg. 1997;22:315–22.
Cohen Jr MM, Kreiborg S. Hands and feet in the Apert syndrome. Am J Med Genet. 1995;57:82–96.
Holten IW, Smith AW, Bourne AJ, David DJ. The Apert syndrome hand: pathologic anatomy and clinical manifestations. Plast Reconstr Surg. 1997;99:1681–7.
Chang J, Danton TK, Ladd AL, Hentz VR. Reconstruction of the hand in Apert syndrome: a simplified approach. Plast Reconstr Surg. 2002;109:465–70; discussion 471.
Fearon JA. Treatment of the hands and feet in Apert syndrome: an evolution in management. Plast Reconstr Surg. 2003;112:1–12; discussion 13–19.
Guero SJ. Algorithm for treatment of apert hand. Tech Hand Up Extrem Surg. 2005;9:126–33.
Barot LR, Caplan HS. Early surgical intervention in Apert’s syndactyly. Plast Reconstr Surg. 1986;77:282–7.
Fereshetian S, Upton J. The anatomy and management of the thumb in Apert syndrome. Clin Plast Surg. 1991;18:365–80.
Zucker RM, Cleland HJ, Haswell T. Syndactyly correction of the hand in Apert syndrome. Clin Plast Surg. 1991;18:357–64.
Harvey I, Brown S, Ayres O, Proudman T. The Apert hand—angiographic planning of a single-stage, 5-digit release for all classes of deformity. J Hand Surg. 2012;37:152–8.
Golash A, Watson JS. Nail fold creation in complete syndactyly using Buck-Gramcko pulp flaps. J Hand Surg Br. 2000;25:11–4.
Stefansson GM, Stilwell JH. Use of silastic sheet in Apert’s syndactyly. J Hand Surg Br. 1994;19:248–9.
Dao KD, Shin AY, Kelley S, Wood VE. Thumb radial angulation correction without phalangeal osteotomy in Apert’s syndrome. J Hand Surg. 2002;27:125–32.
Oishi SN, Ezaki M. Reconstruction of the thumb in Apert syndrome. Tech Hand Up Extrem Surg. 2010;14:100–3.
Solomon LM, Fretzin D, Pruzansky S. Pilosebaceous abnormalities in Apert’s syndrome. Arch Dermatol. 1970;102:381–5.
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Pridgen, B.C., Chattopadhyay, A., Chang, J. (2015). Syndactyly: Apert Syndrome. In: Laub Jr., D. (eds) Congenital Anomalies of the Upper Extremity. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-7504-1_14
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DOI: https://doi.org/10.1007/978-1-4899-7504-1_14
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