Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Miller-Dieker syndrome


Other Names for this Disease
  • Lissencephaly due to 17p13.3 deletion
  • MDLS
  • Miller-Dieker lissencephaly syndrome
  • Monosomy 17p13.3
  • Telomeric deletion 17p
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.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Your Questions Answered
Your Questions Answered
View questions about this condition answered by GARD Information Specialists. You can also submit a new question.

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
  • Lissencephaly due to 17p13.3 deletion
  • MDLS
  • Miller-Dieker lissencephaly syndrome
  • Monosomy 17p13.3
  • Telomeric deletion 17p
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.