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Genetic and Rare Diseases Information Center (GARD)

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Focal dermal hypoplasia


Other Names for this Disease

  • DHOF
  • FDH
  • FODH
  • Goltz Gorlin Syndrome
  • Goltz Syndrome
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

Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. Most individuals with this condition are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability. This condition is caused by mutations in the PORCN gene and is inherited in an X-linked dominant manner. Most cases of focal dermal hypoplasia in females result from new mutations in the PORCN gene and occur in people with no history of the disorder in their family. When focal dermal hypoplasia occurs in males, it always results from a new mutation in this gene that is not inherited.[1]
Last updated: 9/23/2011

References

  1. Focal dermal hypoplasia. Genetics Home Reference. May 2009; http://ghr.nlm.nih.gov/condition/focal-dermal-hypoplasia. Accessed 9/23/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Focal dermal hypoplasia. We will answer your question and update these pages with new resources and information.

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.
  • Genetics Home Reference (GHR) contains information on Focal dermal hypoplasia. 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. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The 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 Focal dermal hypoplasia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • DHOF
  • FDH
  • FODH
  • Goltz Gorlin Syndrome
  • Goltz Syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.