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Apert syndrome
Other Names for this Disease
- Acrocephalo-syndactyly type 1
- ACS 1
- Apert-Crouzon disease
- Syndactylic oxycephaly
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Overview
Apert syndrome is a disorder mainly characterized by craniosynostosis (premature fusion of skull bones, causing abnormalities in the shape of the head and face) and syndactyly (fusion or webbing or fingers and/or toes). Other signs and symptoms may include distinctive facial features (bulging and wide-set eyes; a beaked nose; an underdeveloped upper jaw leading to crowded teeth and other dental problems; and shallow eye sockets which can cause vision problems); polydactyly; hearing loss; hyperhidrosis (increased sweating); and other symptoms. Cognitive abilities in affected individuals range from normal to mild or moderate intellectual disability. It is caused by mutations in the FGFR2 gene and is inherited in an autosomal dominant manner.[1] Management typically includes various surgical procedures that are tailored to the affected individual's needs.[2]
References
- Apert syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/apert-syndrome. Accessed July 1, 2011.
- Nathaniel H Robin, Marni J Falk, Chad R Haldeman-Englert. FGFR-Related Craniosynostosis Syndromes. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1455/#craniosynostosis.Management. Accessed July 1, 2011.
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General Information
- Genetics Home Reference (GHR) contains information on Apert syndrome. Click on the link to go to GHR and review the information.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Apert syndrome. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Apert syndrome. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- Hohoff A, Joos U, Meye U, Ehmer U, Stamm T. The spectrum of Apert syndrome: phenotype, particularities in orthodontic treatment, and characteristics of orthognathic surgery. Head Face Med. 2007; 3:10.