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


Genetic and Rare Diseases Information Center (GARD)

Print friendly version

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.


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


  1. Dobyns WB, Das S. LIS1-Associated Lissencephaly/Subcortical Band Heterotopia. GeneReviews. 2009; Accessed 2/15/2011.
  2. Miller-Dieker syndrome. Genetics Home Reference (GHR). 2009; Accessed 2/15/2011.
  3. Pilz D. Miller-Dieker syndrome. Orphanet. 2005; Accessed 2/15/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Miller-Dieker syndrome have been answered. See questions and answers. 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

  • 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-Dieker syndrome. Click on the link to view a sample search on this topic.