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Diseases

Genetic and Rare Diseases Information Center (GARD)

Miller syndrome


Other Names for this Disease
  • Genee-Wiedemann acrofacial dysostosis
  • GWAFD
  • Genee-Wiedemann syndrome
  • Wildervanck-Smith 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.
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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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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 Miller syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Genee-Wiedemann acrofacial dysostosis
  • GWAFD
  • Genee-Wiedemann syndrome
  • Wildervanck-Smith 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.