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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Carpenter syndrome


Other Names for this Disease
  • ACPS 2
  • Acrocephalopolysyndactyly type 2
  • Acrocephalosyndactyly, type II
  • Carpenter syndrome 1
  • CRPT1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Carpenter syndrome is a condition characterized by premature fusion of skull bones (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.[1] Treatment focuses on the specific features in each affected person.[2] Life expectancy is shortened but very variable.[1]
Last updated: 2/5/2015

References

  1. Carpenter syndrome. Genetics Home Reference. May, 2013; http://ghr.nlm.nih.gov/condition/carpenter-syndrome. Accessed 2/5/2015.
  2. Carpenter syndrome. NORD. November 3, 2010; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/612/viewAbstract. Accessed 2/5/2015.
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Basic Information

  • 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.

In Depth Information

  • 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.
Other Names for this Disease
  • ACPS 2
  • Acrocephalopolysyndactyly type 2
  • Acrocephalosyndactyly, type II
  • Carpenter syndrome 1
  • CRPT1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.