Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Apert syndrome


Other Names for this Disease
  • Acrocephalo-syndactyly type 1
  • ACS 1
  • Syndactylic oxycephaly
  • Apert-Crouzon disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

Newline Maker

How is Apert syndrome diagnosed? Is genetic testing needed to confirm the diagnosis?

Apert syndrome and the other conditions associated with FGFR-related craniosynostosis were clinically defined long before the molecular basis of this group of disorders was discovered. Apert syndrome can be diagnosed primarily based on the following clinical findings:[1][2]

  • Turribrachycephalic skull shape (cone-shaped or towering skull) which is observable clinically and can be confirmed by skull radiograph or head CT examination;
  • Characteristic facial features including moderate-to-severe underdevelopment of the midface, bulging and wide-set eyes, beaked nose, underdeveloped jaw and shallow eye sockets; 
  • Variable hand and foot findings such as syndactyly of the fingers and toes and polydactyly.

While clinical findings are suggestive of Apert syndrome, molecular genetic testing can help to confirm the diagnosis. Fibroblast growth factor receptor type 2 (FGFR2) sequence analysis is highly sensitive for Apert syndrome.[1] More than 98% of cases are caused by a specific mutation in the 7th exon of the gene encoding FGFR2. The remaining cases are due to another specific mutation in or near exon 9 of FGFR2.[3][4] 

GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.

Last updated: 7/1/2011

References
  1. Nathaniel H Robin, Marni J Falk, Chad R Haldeman-Englert. FGFR-Related Craniosynostosis Syndromes. GeneReviews. June 7, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1455/#craniosynostosis.Management. Accessed 7/25/2014.
  2. Apert syndrome. Genetics Home Reference. February 2008; http://ghr.nlm.nih.gov/condition/apert-syndrome. Accessed 7/1/2011.
  3. Lajeunie E. Apert syndrome. Orphanet. November 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=87. Accessed 7/1/2011.
  4. Chen H. Apert Syndrome Workup. eMedicine. September 2009; http://emedicine.medscape.com/article/941723-workup. Accessed 7/1/2011.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Acrocephalo-syndactyly type 1
  • ACS 1
  • Syndactylic oxycephaly
  • Apert-Crouzon disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.