Skip to main content
SpringerLink
Log in

Apert Syndrome

  • Living reference work entry
  • First Online:
Atlas of Genetic Diagnosis and Counseling

  • 543 Accesses

Abstract

Apert syndrome is named after the French physician who described the syndrome acrocephalosyndactylia in 1906. Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, craniofacial anomalies, and severe symmetrical syndactyly (cutaneous and bony fusion) of the hands and feet. It probably is the most familiar and best-described type of acrocephalosyndactyly. Prevalence is estimated at 1 in 65,000 (approximately 15.5 in 1,000,000) live births (Cohen et al. 1992; Cohen and Kreiborg 1992, 1993a). Apert syndrome accounts for 4.5 % of all cases of craniosynostosis.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution

Institutional subscriptions

References

  • Allanson, J. E. (1986). Germinal mosaicism in Apert syndrome. Clinical Genetics, 29, 429–433.

    Article  PubMed  CAS  Google Scholar 

  • Buncic, J. R. (1991). Ocular aspects of Apert syndrome. Clinics in Plastic Surgery, 18, 315–319.

    PubMed  CAS  Google Scholar 

  • Campis, L. B. (1991). Children with Apert syndrome: Developmental and psychologic considerations. Clinics in Plastic Surgery, 18, 409–416.

    PubMed  CAS  Google Scholar 

  • Chen, H. (2014). Apert syndrome. eMedicine from WebMD. Updated 17 Dec 2014, Retrieved from http://emedicine.medscape.com/article/941723-overview

  • Cohen, M. M., Jr. (1977). Genetic perspectives on craniosynostosis and syndromes with craniosynostosis. Journal of Neurosurgery, 47, 886–898.

    Article  PubMed  Google Scholar 

  • Cohen, M. M., Jr. (1988). Craniosynostosis update 1987. American Journal of Medical Genetics, 4, 99–148.

    Article  PubMed  Google Scholar 

  • Cohen, M. M., Jr., & Kreiborg, S. (1990). The central nervous system in the Apert syndrome. American Journal of Medical Genetics, 35, 36–45.

    Article  PubMed  Google Scholar 

  • Cohen, M. M., Jr., & Kreiborg, S. (1992). Upper and lower airway compromise in the Apert syndrome. American Journal of Medical Genetics, 44, 90–93.

    Article  PubMed  Google Scholar 

  • Cohen, M. M., Jr., & Kreiborg, S. (1993a). An updated pediatric perspective on the Apert syndrome. American Journal of Diseases of Children, 147, 989–993.

    Article  PubMed  Google Scholar 

  • Cohen, M. M., Jr., & Kreiborg, S. (1993b). Visceral anomalies in the Apert syndrome. American Journal of Medical Genetics, 45, 758–760.

    Article  PubMed  Google Scholar 

  • Cohen, M. M., Jr., & Kreiborg, S. (1993c). Growth pattern in the Apert syndrome. American Journal of Medical Genetics, 47(5), 617–623.

    Article  PubMed  Google Scholar 

  • Cohen, M. M., Jr., & Kreiborg, S. (1993d). Skeletal abnormalities in the Apert syndrome. American Journal of Medical Genetics, 47, 624–632.

    Article  PubMed  Google Scholar 

  • Cohen, M. M., Jr., & Kreiborg, S. (1995a). Hands and feet in the Apert syndrome. American Journal of Medical Genetics, 57, 82–96.

    Article  PubMed  Google Scholar 

  • Cohen, M. M., Jr., & Kreiborg, S. (1995b). Cutaneous manifestations of Apert syndrome. American Journal of Medical Genetics, 58, 94–96.

    Article  PubMed  Google Scholar 

  • Cohen, M. M., Jr., & Kreiborg, S. (1996). A clinical study of the craniofacial features in Apert syndrome. International Journal of Oral and Maxillofacial Surgery, 25, 45–53.

    Article  PubMed  Google Scholar 

  • Cohen, M. M., Jr., Kreiborg, S., Lammer, E. J., Cordero, J. F., et al. (1992). Birth prevalence study of the Apert syndrome. American Journal of Medical Genetics, 42, 655–659.

    Article  PubMed  Google Scholar 

  • Fearon, J. A., & Podner, C. (2013). Apert syndrome: Evaluation of a treatment algorithm. Plastic and Reconstructive Surgery, 131, 132–142.

    Article  PubMed  CAS  Google Scholar 

  • Ferreira, J. C., Carter, S. M., Bernstein, P. S., et al. (1999). Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings. Ultrasound in Obstetrics and Gynecology, 14, 426–430.

    Article  PubMed  CAS  Google Scholar 

  • Gould, H. J., & Caldarelli, D. D. (1982). Hearing and otopathology in Apert syndrome. Archives of Otolaryngology, 108, 347–399.

    Article  PubMed  CAS  Google Scholar 

  • Harvey, I., Brown, S., Ayres, O., et al. (2012). The Apert hand-angiographic planning of a single-stage, 5-digit release for all classes of deformity. Journal of Hand Surgery, 37A, 152–158.

    Article  Google Scholar 

  • Hill, L. M., Thomas, M. L., Peterson, D. S., et al. (1987). The ultrasound detection of Apert syndrome. Journal of Ultrasound in Medicine, 6, 601–604.

    PubMed  CAS  Google Scholar 

  • Jabs, E. W. (1998). Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates. Clinical Genetics, 54(Suppl 1), 6–13.

    Google Scholar 

  • Kaufmann, K., Baldinger, S., & Pratt, L. (1997). Ultrasound detection of Apert syndrome: A case report and literature review. American Journal of Perinatology, 14, 427–430.

    Article  PubMed  CAS  Google Scholar 

  • Kreiborg, S., & Cohen, M. M., Jr. (1990). Characteristics of the infant Apert skull and its subsequent development. Journal of Craniofacial Genetics and Developmental Biology, 10, 399–410.

    PubMed  CAS  Google Scholar 

  • Kreiborg, S., & Cohen, M. M., Jr. (1992). The oral manifestations of Apert syndrome. Journal of Craniofacial Genetics and Developmental Biology, 12, 41–48.

    PubMed  CAS  Google Scholar 

  • Kreiborg, S., Barr, M., Cohen, M. M., Jr., et al. (1992). Cervical spine in the Apert syndrome. American Journal of Medical Genetics, 43, 704–708.

    Article  PubMed  CAS  Google Scholar 

  • Lajeunie, E., Cameron, R., Elghouzzi, V., et al. (1999). Clinical variability in patients with Apert’s syndrome. Journal of Neurosurgery, 90, 443–447.

    Article  PubMed  CAS  Google Scholar 

  • Leonard, C. O., Daikoku, N. H., Winn, K., et al. (1982). Prenatal fetoscopic diagnosis of the Apert syndrome. American Journal of Medical Genetics, 11, 5–9.

    Article  PubMed  CAS  Google Scholar 

  • Lomri, A., Lemonnier, J., Hott, M., et al. (1998). Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome. Journal of Clinical Investigation, 101, 1310–1317.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  • Marsh, J. L., Galic, M., & Vannier, M. W. (1991). Surgical correction of the craniofacial dysmorphology of Apert syndrome. Clinics in Plastic Surgery, 18, 251–275.

    PubMed  CAS  Google Scholar 

  • Moloney, D. M., Slaney, S. F., Oldridge, M., et al. (1996). Exclusive paternal origin of new mutations in Apert syndrome. Nature Genetics, 13, 48–53.

    Article  PubMed  CAS  Google Scholar 

  • Oldridge, M., Zackai, E. H., McDonald-McGinn, D. M., et al. (1999). De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. American Journal of Human Genetics, 64, 446–461.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  • Park, W. J., Theda, C., Maestri, N. E., et al. (1995). Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. American Journal of Human Genetics, 57, 321–328.

    PubMed  CAS  PubMed Central  Google Scholar 

  • Patton, M. A., et al. (1988). Intellectual development in Apert’s syndrome: A long term follow up of 29 patients. Journal of Medical Genetics, 25, 164–167.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  • Quintero-Rivera, F., Robson, C. D., Reiss, R. E., et al. (2006). Apert syndrome: What prenatal radiographic findings should prompt its consideration? Prenatal Diagnosis, 26, 966–972.

    Article  PubMed  Google Scholar 

  • Renier, D., Arnaud, E., Cinalli, G., et al. (1996). Prognosis for mental function in Apert’s syndrome. Journal of Neurosurgery, 85, 66–72.

    Article  PubMed  CAS  Google Scholar 

  • Skidmore, D. L., Pai, A. P., Toi, A., et al. (2003). Prenatal diagnosis of Apert syndrome: Report of two cases. Prenatal Diagnosis, 23, 1009–1013.

    Article  PubMed  Google Scholar 

  • Slaney, S. F., Oldridge, M., Hurst, J. A., et al. (1996). Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. American Journal of Human Genetics, 58, 923–932.

    PubMed  CAS  PubMed Central  Google Scholar 

  • Thompson, D. N., Slaney, S. F., Hall, C. M., et al. (1996). Congenital cervical spinal fusion: A study in Apert syndrome. Pediatric Neurosurgery, 25, 20–27.

    Article  PubMed  CAS  Google Scholar 

  • Weber, B., Schwabegger, A. H., & Vodopiutz, J. (2010). Prenatal diagnosis of Apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis. Fetal Diagnosis and Therapy, 27, 51–56.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Shriners Hospitals for Children, Shreveport, LA, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, 71130, Shreveport, LA, USA

    Harold Chen

Authors
  1. Harold Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Harold Chen .

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer Science+Business Media New York

About this entry

Cite this entry

Chen, H. (2015). Apert Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_14-2

Download citation

  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_14-2

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

  • eBook Packages: Springer Reference Biomedicine and Life SciencesReference Module Biomedical and Life Sciences

Publish with us

Policies and ethics

Search

Navigation