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Genetic and Rare Diseases Information Center (GARD)

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Miller-Dieker syndrome


Other Names for this Disease

  • MDLS
  • Miller-Dieker lissencephaly 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-Dieker syndrome is a genetic condition characterized by lissencephaly, typical facial features, and severe neurologic abnormalities.[1] Symptoms may include severe intellectual disability, developmental delay, seizures, muscle stiffness, weak muscle tone and feeding difficulties. Miller-Dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17.[2] Treatment is symptomatic and supportive.[3]
Last updated: 2/15/2011

References

  1. Dobyns WB, Das S. LIS1-Associated Lissencephaly/Subcortical Band Heterotopia. GeneReviews. 2009; http://www.ncbi.nlm.nih.gov/books/NBK5189/. Accessed 2/15/2011.
  2. Miller-Dieker syndrome. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome. Accessed 2/15/2011.
  3. Pilz D. Miller-Dieker syndrome. Orphanet. 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=531. Accessed 2/15/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Miller-Dieker 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

  • 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-Dieker syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • MDLS
  • Miller-Dieker lissencephaly 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.