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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Book syndrome


Other Names for this Disease

  • 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.

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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1 question(s) from the public on Book syndrome have been answered. See questions and answers. You can also submit a new question.

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

  • The Online Mendelian Inheritance in Man (OMIM) is an 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
  • 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.