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Apert syndrome

Reviewed February 2008

What is Apert syndrome?

Apert syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly).

Many of the characteristic facial features of Apert syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth and other dental problems. Shallow eye sockets can cause vision problems. Early fusion of the skull bones also affects the development of the brain, which can disrupt intellectual development. Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability.

Individuals with Apert syndrome have webbed or fused fingers and toes. The severity of the fusion varies; at a minimum, three digits on each hand and foot are fused together. In the most severe cases, all of the fingers and toes are fused. Less commonly, people with this condition may have extra fingers or toes (polydactyly). Additional signs and symptoms of Apert syndrome can include hearing loss, unusually heavy sweating (hyperhidrosis), oily skin with severe acne, patches of missing hair in the eyebrows, fusion of spinal bones in the neck (cervical vertebrae), and recurrent ear infections that may be associated with an opening in the roof of the mouth (a cleft palate).

How common is Apert syndrome?

Apert syndrome affects an estimated 1 in 65,000 to 88,000 newborns.

What genes are related to Apert syndrome?

Mutations in the FGFR2 gene cause Apert syndrome. This gene produces a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a specific part of the FGFR2 gene alters the protein and causes prolonged signaling, which can promote the premature fusion of bones in the skull, hands, and feet.

How do people inherit Apert syndrome?

Apert syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases of Apert syndrome result from new mutations in the gene, and occur in people with no history of the disorder in their family. Individuals with Apert syndrome, however, can pass along the condition to the next generation.

Where can I find information about treatment for Apert syndrome?

You may find information on treatment or management of Apert syndrome or some of its symptoms in the links below, particularly the links for Gene Reviews, MedlinePlus Encyclopedia, Educational resources, and Patient support.

Where can I find additional information about Apert syndrome?

You may find the following resources about Apert syndrome helpful. These materials are written for the general public.

  • MedlinePlus - Health information
    • Encyclopedia: Apert syndrome (http://www.nlm.nih.gov/medlineplus/ency/article/001581.htm)
    • Encyclopedia: Webbing of the fingers or toes (http://www.nlm.nih.gov/medlineplus/ency/article/003289.htm)
    • Health Topic: Facial Injuries and Disorders (http://www.nlm.nih.gov/medlineplus/facialinjuriesanddisorders.html)
    • Health Topic: Head and Brain Malformations (http://www.nlm.nih.gov/medlineplus/headandbrainmalformations.html)
  • Additional NIH Resources - National Institutes of Health
    National Institute of Neurological Disorders and Stroke: Craniosynostosis Information Page (http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm)
  • Educational resources - Information pages
    • Ask the Geneticist: Inheritance of Apert syndrome (http://www.genetics.emory.edu/ask/question.php?question_id=1181)
    • Children's Hospital Boston (http://www.childrenshospital.org/az/Site789/mainpageS789P0.html)
    • Cincinnati Children's Hospital Medical Center: Craniosynostosis (http://www.cincinnatichildrens.org/health/info/craniofacial/diagnose/)
    • Collaboration for Craniofacial Development and Disorders, Johns Hopkins University (http://www.hopkinsmedicine.org/craniofacial/Gateway/ApertSyndrome.cfm)
    • Madisons Foundation (http://www.madisonsfoundation.org/index.php/component/option,com_mpower/diseaseID,346/)
    • Orphanet: Apert syndrome (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=87)
    • Orphanet: Craniosynostosis (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1531)
    • Seattle Children's Hospital and Regional Medical Center (http://craniofacial.seattlechildrens.org/conditions_treated/aperts.asp)
    • Swedish Information Center for Rare Diseases (http://www.socialstyrelsen.se/en/rarediseases/Apert+syndrome.htm)
    • The Craniofacial Center, Dallas, Texas (http://www.thecraniofacialcenter.org/apert.html)
    • U.C. Davis Children's Hospital (http://www.ucdmc.ucdavis.edu/children/clinical_services/cleft_craniofacial/anomalies/apert.html)
  • Patient support - For patients and families
    • AboutFace USA (http://www.aboutfaceusa.org/)
    • Children's Craniofacial Association (http://www.ccakids.com)
    • Family Village (http://www.familyvillage.wisc.edu/lib_aprt.htm)
    • Let's Face It (http://www.faceit.org)
    • National Organization for Rare Disorders (NORD) (http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Apert+Syndrome)
    • Resource list from the University of Kansas Medical Center (http://www.kumc.edu/gec/support/apert.html)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=craniosynostosis)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=2760)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/search/condition=%22Acrocephalosyndactylia%22+OR+%22Apert+syndrome%22+OR+%22Craniosynostoses%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=(Acrocephalosyndactylia[MAJR])+AND+((apert+syndrome[TIAB])+OR+(acrocephalosyndactyly[TIAB])+OR+(acrocephaly[TIAB]))+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=1440+Days)
  • OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=101200)

What other names do people use for Apert syndrome?

  • Acrocephalosyndactyly (Apert)

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Apert syndrome?

  • See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
  • Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
  • Submit your question to Ask the Geneticist (http://www.askthegen.org/).

What glossary definitions help with understanding Apert syndrome?

acne ; autosomal ; autosomal dominant ; cell ; cleft palate ; craniosynostosis ; embryonic ; fibroblast ; gene ; growth factor ; hyperhidrosis ; infection ; mutation ; new mutation ; ocular proptosis ; palate ; polydactyly ; proptosis ; protein ; receptor ; sign ; symptom ; syndactyly ; syndrome ; vertebra

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • Carinci F, Pezzetti F, Locci P, Becchetti E, Carls F, Avantaggiato A, Becchetti A, Carinci P, Baroni T, Bodo M. Apert and Crouzon syndromes: clinical findings, genes and extracellular matrix. J Craniofac Surg. 2005 May;16(3):361-8. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15915098)
  • Chen L, Deng CX. Roles of FGF signaling in skeletal development and human genetic diseases. Front Biosci. 2005 May 1;10:1961-76. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15769677)
  • Gene Reviews (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=craniosynostosis)
  • Ibrahimi OA, Chiu ES, McCarthy JG, Mohammadi M. Understanding the molecular basis of Apert syndrome. Plast Reconstr Surg. 2005 Jan;115(1):264-70. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15622262)
  • Verma S, Draznin M. Apert syndrome. Dermatol Online J. 2005 Mar 1;11(1):15. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15748556)
  • Wilkie AO, Patey SJ, Kan SH, van den Ouweland AM, Hamel BC. FGFs, their receptors, and human limb malformations: clinical and molecular correlations. Am J Med Genet. 2002 Oct 15;112(3):266-78. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12357470)
  • Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet. 1995 Feb;9(2):165-72. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=7719344)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2008
Published: January 23, 2009