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Genetic and Rare Diseases Information Center (GARD)

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Ambras syndrome


Other Names for this Disease

  • HTC 1
  • Hypertrichosis universalis congenita Ambras type
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Overview

Ambras syndrome is a very rare type of hypertrichosis lanuginosa congenita, a congenital skin disease characterized by excessive hair growth on the entire body, with the exception of the palms, soles, and mucous membranes. Individuals with Ambras syndrome have excessive growth of vellus (soft, fine and short) hair, especially on the face, ears, and shoulders.[1][2] Facial and dental abnormalities may also be present.[2] Ambras syndrome has been mapped to the short (q) arm of chromosome 8. It appears to follow an autosomal dominant pattern of inheritance.[1]
Last updated: 10/23/2014

References

  1. Hypertrichosis universalis congenita, Ambras Type. Online Mendelian Inheritance in Man (OMIM). August 26, 2014; http://www.omim.org/entry/145701. Accessed 10/23/2014.
  2. Congenital generalized hypertrichosis, Ambras type. Orphanet. February 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1023. Accessed 10/23/2014.
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In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. 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 Ambras syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • HTC 1
  • Hypertrichosis universalis congenita Ambras type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.