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Diseases

Genetic and Rare Diseases Information Center (GARD)

Miller-Dieker syndrome


Other Names for this Disease
  • Miller-Dieker lissencephaly syndrome
  • MDLS
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 (MDS) is a genetic condition characterized by a specific brain malformation (lissencephaly); distinctive facial features; and severe neurologic abnormalities including intellectual disability and seizures. Very few affected children survive beyond childhood.[1][2] MDS is caused by a deletion (missing piece) of genetic material on the short arm of chromosome 17 (17p).[2] Most cases are not inherited and occur randomly. In some cases, it is caused by inheriting a chromosome rearrangement (balanced translocation) from an unaffected parent.[2] Treatment is based on the symptoms in each person and aims to prevent complications and control seizures.[3]
Last updated: 5/18/2016

References

  1. Carlos A Bacino. Microdeletion syndromes (chromosomes 12 to 22). UpToDate. Waltham, MA: UpToDate; April, 2016;
  2. Miller-Dieker syndrome. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome.
  3. Pilz D. Miller-Dieker syndrome. Orphanet. 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=531.
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Basic Information

  • The Cortical Foundation provides information about Miller-Dieker syndrome.
  • 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.
  • Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about Miller-Dieker syndrome.

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-Dieker syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Miller-Dieker lissencephaly syndrome
  • MDLS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.