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Apert Syndrome

This syndrome involves abnormalities of head shape and hand/foot development. The fingers and toes are fused together, giving the appearance of a mitten or sock. It can also be associated with internal organ malformations. Visit these Apert Syndrome links to learn more:

  • Family: Apert Syndrome Introductory Article - Apert syndrome is a type of birth defect that occurs in about 1 of every 100,000 to 160,000 births. Infants with Apert syndrome are born with abnormalities of the face, skull, hands, and feet. This condition was first recognized by, and is named for, a doctor named Frederick Apert, who studied the condition in several children in 1942.


  • Physician: Apert Syndrome Advanced Article - Within the spectrum of craniosynostosis disorders caused by mutations in the fibroblast growth factor receptor genes, Apert syndrome is somewhat unique. Not only is the pattern and development of craniosynostosis different from the related disorders of Crouzon and Jackson-Weiss syndromes, but the extracranial effects are strikingly different.

Related Web Sites

Site Notes
American Academy of Pediatrics Policy Statement - Bicycle Helmets Bicycling is one of the most popular recreational sports among children in America and is the leading cause of recreational sports injuries treated in emergency departments
American Association of Neurological Surgeons and Congress of Neurological Surgeons American Association of Neurological Surgeons (AANS) a scientific and educational association devoted to the development of neurological surgery, with more than 5,400 members in the United States and Canada
American Cleft Palate-Craniofacial Association International non-profit association of over 2,500 health care professionals in over 40 countries who are involved in treatment and/or research of cleft lip, cleft palate and other craniofacial anomalies
American College of Medical Genetics Designed to bring the latest information to ACMG members and the public
Apert Support and Information Network Teeter's story - also an apert's chat group and stories
Asher's Craniosynostosis Home Page The lambdoid sutures in AsherÂ’s skull were fused. That was the first time I had ever heard the word "craniosynostosis"
Ask the Craniofacial Doc A Q & A forum to provide general information regarding medical aspects of craniofacial conditions
Association of Birth Defect Research for Children An area to research birth defects, or participate in the National Birth Defect Registry
CDC: National Center on Birth Defects and Developmental Disabilities A center established to focus on birth defects and disabilities- Created by the Children's Health Act of 2000
Changing Faces Focus is on disfigurements affecting the face and other parts of the body or disfiguring conditions
Children's Craniofacial Association Also:http://www.ccakids.com
COGENE: the Craniofacial and Oral Gene Expression Network COGENE is a group of investigators involved in describing human gene expression changes that take place during early stages of development with emphasis on craniofacial development
Craniofacial diseases Craniofacial diseases and abnormalities - conditions that involve the skull and upper face
CRANIOSUPPORT This site offers support to families dealing with craniosynostosis.
Craniosynostosis Pediatric database
FACES: The National Craniofacial Association A place where parents with children born with some type of anomaly affecting their face, head, and/or neck can turn for information and support
Friendly Faces A resource for, and network of, individuals with facial differences, parents, families, friends, and health care professionals
Headlines Craniofacial Support This support group provides support and information to families and individuals with any of the conditions or syndromes having Craniosynostosis
National Foundation for Facial Reconstruction Addressing the suffering of the more than 220,000 children born each year with birth defects of the head and face and the thousands more with acquired disfigurements, the NFFR lends its support to the mulidisciplinary craniofacial team at the Institute of Reconstructive Plastic Surgery at NYU Medical Center.
National Institutes of Health Office of Rare Disorders Links to definitions, causes, treatments and publications; links to Institutes and Centers at the National Institutes of Health (NIH); links to glossary for defining technical language and an extensive list of rare diseases
OMIM 101200 Apert Syndrome

Disclaimer: A link here does not signify the endorsement of a site.

Last Updated: 11/12/03

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