Other Names for this Disease
- Acrocephalopolysyndactyly type 2
- ACPS 2
- Acrocephalosyndactyly, type II
- Carpenter syndrome 1
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craniosynostosis); finger and toe abnormalities; and other developmental problems. The features in affected people vary. Craniosynostosis can give the head a pointed appearance; cause asymmetry of the head and face; affect the development of the brain; and cause characteristic facial features. Other signs and symptoms may include dental abnormalities; vision problems; hearing loss; heart defects; genital abnormalities; obesity; various skeletal abnormalities; and a range of intellectual disability. Carpenter syndrome can be caused by mutations in the RAB23 or MEGF8 gene and is inherited in an autosomal recessive manner. Treatment focuses on the specific features in each affected person. Life expectancy is shortened but very variable.Carpenter syndrome is a condition characterized by premature fusion of skull bones (
Last updated: 2/5/2015
- Carpenter syndrome. Genetics Home Reference. May, 2013; http://ghr.nlm.nih.gov/condition/carpenter-syndrome. Accessed 2/5/2015.
- Carpenter syndrome. NORD. November 3, 2010; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/612/viewAbstract. Accessed 2/5/2015.
- Genetics Home Reference contains information on Carpenter syndrome. This website is maintained by the National Library of Medicine.
- 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Carpenter syndrome. Click on the link to view a sample search on this topic.