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Diseases

Genetic and Rare Diseases Information Center (GARD)

Book syndrome


Other Names for this Disease
  • Böök syndrome
  • PHC syndrome
  • Premolar aplasia, hyperhidrosis, and canities prematura
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Overview

Book syndrome is a very rare type of ectodermal dysplasia. Signs and symptoms include premolar aplasia (when the premolars fail to develop); excessive sweating (hyperhidrosis); and premature graying of the hair. Other features that have been reported in only one person include a narrow palate (roof of the mouth); hypoplastic (underdeveloped) nails; eyebrow anomalies; a unilateral simian crease; and poorly formed dermatoglyphics (skin patterns on the hands and feet). Book syndrome is inherited in an autosomal dominant manner.[1]
Last updated: 7/14/2014

References

  1. Book syndrome. Orphanet. October, 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1262. Accessed 7/10/2014.
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Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • 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

  • 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 Book syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Böök syndrome
  • PHC syndrome
  • Premolar aplasia, hyperhidrosis, and canities prematura
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.