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Genetic and Rare Diseases Information Center (GARD)

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Miller syndrome


Other Names for this Disease

  • Genee-Wiedemann acrofacial dysostosis
  • Genee-Wiedemann syndrome
  • GWAFD
  • POADS syndrome
  • Postaxial acrofacial dysostosis (POADS) 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

Miller syndrome is a rare condition that mainly affects the development of the face and limbs. Characteristic features include underdeveloped cheek bones, a very small lower jaw, cleft lip and/or palate, abnormalities of the eyes, absent fifth (pinky) fingers and toes, and abnormally formed bones in the forearms and lower legs. The severity of the disorder varies among affected individuals. Miller syndrome is caused by mutations in the DHODH gene. It is inherited in an autosomal recessive manner.[1]
Last updated: 5/27/2014

References

  1. Miller syndrome. Genetics Home Reference (GHR). August 2010; http://ghr.nlm.nih.gov/condition/miller-syndrome. Accessed 5/27/2014.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Miller syndrome. We will answer your question and update these pages with new resources and information.

Basic Information

  • The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
  • Genetics Home Reference contains information on Miller 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

  • 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 Miller syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Genee-Wiedemann acrofacial dysostosis
  • Genee-Wiedemann syndrome
  • GWAFD
  • POADS syndrome
  • Postaxial acrofacial dysostosis (POADS) 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.